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G |
ADCK5 |
aarF domain containing kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:393,720...410,582
Ensembl chr 4:393,728...410,559
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G |
BOP1 |
BOP1 ribosomal biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:486,562...507,141
Ensembl chr 4:475,426...507,138
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G |
CCDC166 |
coiled-coil domain containing 166 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:920,432...924,051
Ensembl chr 4:920,749...923,197
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G |
CPSF1 |
cleavage and polyadenylation specific factor 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:382,887...393,732
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G |
CYC1 |
cytochrome c1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:606,510...608,991
Ensembl chr 4:606,516...608,996
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G |
DGAT1 |
diacylglycerol O-acyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:452,890...463,665
Ensembl chr 4:452,662...466,684
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G |
EEF1D |
eukaryotic translation elongation factor 1 delta |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:969,532...982,250
Ensembl chr 4:969,527...983,270
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G |
EPPK1 |
epiplakin 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:780,276...798,760
Ensembl chr 4:785,029...798,563
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G |
EXOSC4 |
exosome component 4 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:618,993...621,336
Ensembl chr 4:618,990...621,342
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G |
FAM83H |
family with sequence similarity 83 member H |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517
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G |
FBXL6 |
F-box and leucine rich repeat protein 6 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:424,433...427,799
Ensembl chr 4:424,508...427,799
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G |
FOXH1 |
forkhead box H1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:320,610...324,570
Ensembl chr 4:322,838...324,481
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G |
GFUS |
GDP-L-fucose synthase |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:950,947...955,865
Ensembl chr 4:949,867...959,744
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G |
GLI4 |
GLI family zinc finger 4 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:1,195,414...1,222,456
Ensembl chr 4:1,215,075...1,235,163
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G |
GPAA1 |
glycosylphosphatidylinositol anchor attachment 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:614,596...618,274
Ensembl chr 4:614,601...618,241
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G |
GPIHBP1 |
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:1,253,401...1,256,921
Ensembl chr 4:1,254,565...1,256,577
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G |
GRINA |
glutamate ionotropic receptor NMDA type subunit associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:682,823...686,144
Ensembl chr 4:682,835...686,116
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G |
GSDMD |
gasdermin D |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:995,753...1,001,964
Ensembl chr 4:995,763...1,000,271
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G |
HGH1 |
HGH1 homolog |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:581,751...585,029
Ensembl chr 4:581,758...585,035
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G |
HSF1 |
heat shock transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:463,531...486,483
Ensembl chr 4:463,393...486,473
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G |
KIFC2 |
kinesin family member C2 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:324,623...332,221
Ensembl chr 4:324,626...331,917
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G |
LOC100152459 |
cysteine and histidine-rich protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:335,139...348,472
Ensembl chr 4:335,301...346,534
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G |
MAF1 |
MAF1 homolog, negative regulator of RNA polymerase III |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:597,410...600,520
Ensembl chr 4:597,472...600,447
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G |
MAFA |
MAF bZIP transcription factor A |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:1,090,018...1,093,600
Ensembl chr 4:1,090,874...1,093,600
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G |
MAPK15 |
mitogen-activated protein kinase 15 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 4:909,266...915,537
Ensembl chr 4:909,268...915,475
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G |
MROH1 |
maestro heat like repeat family member 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:507,223...577,859
Ensembl chr 4:507,228...577,132
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G |
MROH6 |
maestro heat like repeat family member 6 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:988,367...994,613
Ensembl chr 4:988,185...993,815
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G |
NAPRT |
nicotinate phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:983,428...986,750
Ensembl chr 4:983,423...986,748
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G |
NRBP2 |
nuclear receptor binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 4:800,722...808,031
Ensembl chr 4:800,063...807,174
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G |
OPLAH |
5-oxoprolinase, ATP-hydrolysing |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 4:629,901...639,420
Ensembl chr 4:629,870...639,406
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G |
PARP10 |
poly(ADP-ribose) polymerase family member 10 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:688,511...695,808
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G |
PLEC |
plectin |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696
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G |
PUF60 |
poly(U) binding splicing factor 60 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:812,137...824,321
Ensembl chr 4:812,131...824,318
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G |
PYCR3 |
pyrroline-5-carboxylate reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 4:959,709...964,195
Ensembl chr 4:959,710...964,192
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G |
RHPN1 |
rhophilin Rho GTPase binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:1,123,098...1,133,030
Ensembl chr 4:1,123,105...1,132,966
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G |
SCRIB |
scribble planar cell polarity protein |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 4:824,925...852,360
Ensembl chr 4:825,062...852,664
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G |
SCRT1 |
scratch family transcriptional repressor 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:443,100...449,113
Ensembl chr 4:443,311...447,677
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G |
SCX |
scleraxis bHLH transcription factor |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:500,884...503,276
Ensembl chr 4:500,526...503,193
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G |
SHARPIN |
SHANK associated RH domain interactor |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:600,698...605,711
Ensembl chr 4:600,698...605,701
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G |
SLC39A4 |
solute carrier family 39 member 4 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:372,681...378,519
Ensembl chr 4:372,660...378,516
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G |
SLC52A2 |
solute carrier family 52 member 2 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 | ClinVar Annotator: match by term: Riboflavin transporter deficiency type 2 |
OMIM ClinVar |
PMID:9536098 PMID:10797435 PMID:16199547 PMID:17576681 PMID:20301336 PMID:20447487 PMID:21109228 PMID:22740598 PMID:22824638 PMID:22864630 PMID:23243084 PMID:23289980 PMID:23506902 PMID:24033266 PMID:24253200 PMID:24616084 PMID:25133958 PMID:25356970 PMID:25741868 PMID:25798182 PMID:25807286 PMID:26633542 PMID:26669662 PMID:27148561 PMID:27518768 PMID:28116953 PMID:28251916 PMID:28492532 PMID:28781516 PMID:28824526 PMID:29053833 PMID:29287867 PMID:29858556 PMID:29913018 PMID:29915382 PMID:29961509 PMID:30343981 PMID:30377535 PMID:31064337 PMID:31152317 PMID:32827528 PMID:33036493 PMID:33201363 PMID:33258288 PMID:34428344 PMID:34602496 More...
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NCBI chr 4:421,457...429,360
Ensembl chr 4:421,474...424,384
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G |
SPATC1 |
spermatogenesis and centriole associated 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 4:642,962...665,330
Ensembl chr 4:643,094...664,649
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G |
TIGD5 |
tigger transposable element derived 5 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 4:964,727...969,391
Ensembl chr 4:967,370...969,283
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G |
TMEM249 |
transmembrane protein 249 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 4:428,339...430,393
Ensembl chr 4:428,535...431,282
|
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G |
TONSL |
tonsoku like, DNA repair protein |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 4:349,992...361,749
Ensembl chr 4:350,060...362,167
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G |
TOP1MT |
DNA topoisomerase I mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 4:1,134,179...1,188,149
Ensembl chr 4:1,148,890...1,188,130
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G |
VPS28 |
VPS28 subunit of ESCRT-I |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:362,902...368,038
Ensembl chr 4:362,912...370,588
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G |
ZC3H3 |
zinc finger CCCH-type containing 3 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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|
NCBI chr 4:1,009,927...1,084,133
Ensembl chr 4:1,010,638...1,089,738
|
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G |
ZNF623 |
zinc finger protein 623 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
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NCBI chr 4:928,786...950,917
Ensembl chr 4:928,798...940,679
|
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