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C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24997988 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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Ccdc96 |
coiled-coil domain containing 96 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome |
ClinVar |
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NCBI chr14:74,276,568...74,279,072
Ensembl chr14:74,276,960...74,278,888
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Ttc23 |
tetratricopeptide repeat domain 23 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome |
ClinVar |
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NCBI chr 1:121,245,996...121,329,500
Ensembl chr 1:121,248,084...121,329,494
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Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 More...
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 PMID:22425360 PMID:22693042 PMID:23523602 PMID:24091540 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25741868 PMID:25741905 PMID:25741914 PMID:25846457 PMID:25920555 PMID:26092869 PMID:26694549 PMID:27081551 PMID:27158779 PMID:28125082 PMID:28289185 PMID:28431631 PMID:28454995 PMID:28492532 PMID:28771248 PMID:28976722 PMID:29146704 PMID:29321670 PMID:29605658 PMID:30408610 PMID:30919572 PMID:31158925 PMID:31216405 PMID:31980526 PMID:32037395 PMID:32233090 PMID:33176815 PMID:33774617 PMID:34008892 PMID:34091942 More...
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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Esco2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Juberg-Hayward syndrome |
OMIM ClinVar |
PMID:18414213 PMID:20301332 PMID:25741868 PMID:28492532 PMID:32255174 PMID:32977150 More...
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NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306
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Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Juberg-Hayward syndrome |
ClinVar |
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17431908 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20186808 PMID:20301567 PMID:20598277 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:29334594 PMID:30089473 PMID:30143558 PMID:30675029 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33448881 PMID:34858435 PMID:35000503 PMID:36110220 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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Intu |
inturned planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome II |
ClinVar |
PMID:27158779 |
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NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
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Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Mohr syndrome |
ClinVar OMIM |
PMID:25741868 PMID:27530628 PMID:28492532 PMID:29068549 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO ISS |
ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 1 | ClinVar Annotator: match by term: Orofaciodigital syndrome I OMIM:311200 CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:243C>G (H81Q) (human) DNA:frameshift mutations, missense mutation, nonsense mutation:multiple DNA:deletion:exon:c.2183delG (human) DNA:frameshift mutations, missense mutation, splice-site mutation:multiple DNA:mutations:exon, intron:multiple |
OMIM ClinVar MouseDO CTD RGD |
PMID:9198060 PMID:9482645 PMID:9536098 PMID:11179005 PMID:11950863 PMID:12595504 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:23033313 PMID:24884629 PMID:25741868 PMID:26275793 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28492532 PMID:28973083 PMID:34440443 PMID:18177199 PMID:16397067 PMID:21729220 PMID:11950863 PMID:23033313 More...
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RGD:11535968, RGD:11535966, RGD:11535960, RGD:11535958, RGD:11535957 |
NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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Tmem17 |
transmembrane protein 17 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome I |
ClinVar |
PMID:25741868 PMID:26982032 |
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NCBI chr14:96,483,648...96,524,238
Ensembl chr14:96,518,793...96,524,233
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Celsr2 |
cadherin, EGF LAG seven-pass G-type receptor 2 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome III |
ClinVar |
PMID:27894351 PMID:28492532 |
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NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
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Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome III |
ClinVar |
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome III |
ClinVar |
PMID:25741868 PMID:25869670 PMID:26489029 PMID:28492532 PMID:34354814 |
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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Entpd1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Orofacial-digital syndrome IV |
ClinVar |
PMID:28492532 |
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NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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Tctn3 |
tectonic family member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME | ClinVar Annotator: match by term: Orofacial-digital syndrome IV |
OMIM CTD ClinVar |
PMID:2692869 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22883145 PMID:24033266 PMID:25118024 PMID:25741868 PMID:26092869 PMID:27377014 PMID:28333917 PMID:28492532 PMID:28771248 PMID:33098376 More...
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NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272
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Sclt1 |
sodium channel and clathrin linker 1 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome IX |
ClinVar |
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NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
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Tbc1d32 |
TBC1 domain family, member 32 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome IX |
ClinVar |
PMID:25741868 |
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NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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Ddx59 |
DEAD-box helicase 59 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome V CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16278897 PMID:23972372 PMID:25741868 PMID:25741915 PMID:28492532 PMID:28711741 PMID:29127725 PMID:34008892 More...
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NCBI chr13:47,876,258...47,901,214
Ensembl chr13:47,876,261...47,901,214
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C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: C2CD3-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome xiv |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24997988 PMID:25741868 PMID:26092869 PMID:26477546 PMID:28492532 PMID:30097616 More...
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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Scnm1 |
sodium channel modifier 1 |
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ISO |
ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX |
ClinVar |
PMID:36084634 |
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NCBI chr 2:182,700,883...182,705,119
Ensembl chr 2:182,700,348...182,704,835
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4933427D14Rikl |
RIKEN cDNA 4933427D14 gene like |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Orofaciodigital syndrome XV |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26643951 PMID:28492532 PMID:29138412 PMID:34529350 More...
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NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
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Tmem107 |
transmembrane protein 107 |
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ISO |
ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI |
OMIM ClinVar |
PMID:25741868 PMID:26595381 PMID:28492532 |
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NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Intu |
inturned planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVII |
OMIM ClinVar |
PMID:25741868 PMID:27158779 PMID:28492532 |
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NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
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Ift57 |
intraflagellar transport 57 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome 18 |
OMIM ClinVar |
PMID:25741868 PMID:27060890 PMID:28492532 PMID:32860008 |
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NCBI chr11:51,051,520...51,124,909
Ensembl chr11:51,059,611...51,124,812
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Rab34 |
RAB34, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome XX |
OMIM ClinVar |
PMID:25741868 PMID:37384395 PMID:37619988 |
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NCBI chr10:63,083,319...63,087,538
Ensembl chr10:63,083,338...63,087,538
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