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Aspm |
assembly factor for spindle microtubules |
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ISO |
DNA:mutations: : ClinVar Annotator: match by term: Primary autosomal recessive microcephaly DNA:insertion:cds:c.4195_4196insA (p.T1399NfsX20)(human) |
ClinVar |
PMID:15355437 PMID:18414213 PMID:19028728 PMID:20679666 PMID:22823409 PMID:23611254 PMID:24033266 PMID:25525159 PMID:26467025, PMID:19770472, PMID:18452193 |
RGD:13442485, RGD:13442486 |
NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
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Cenpj |
centromere protein J |
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ISO |
DNA:deletion mutation:cds:c.3243-46delTCAG (human) ClinVar Annotator: match by term: Primary autosomal recessive microcephaly |
ClinVar |
PMID:18414213 PMID:24033266, PMID:16900296 |
RGD:11541115 |
NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
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Cit |
citron rho-interacting serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly |
ClinVar |
PMID:27453579 PMID:27503289 |
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NCBI chr12:46,334,669...46,494,152
Ensembl chr12:46,334,665...46,494,174
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Knl1 |
kinetochore scaffold 1 |
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ISO |
DNA:mutation:cds: c.6125 G>A,p. M2041I(human) |
RGD |
PMID:22983954 |
RGD:9685043 |
NCBI chr 3:110,847,304...110,909,807
Ensembl chr 3:110,855,000...110,909,807
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LOC100911204 |
protein CASC5-like |
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ISO |
DNA:mutation:cds: c.6125 G>A,p. M2041I(human) |
RGD |
PMID:22983954 |
RGD:9685043 |
NCBI chr 3:112,531,429...112,560,698
Ensembl chr 3:112,531,703...112,560,634
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Mcph1 |
microcephalin 1 |
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ISO |
DNA:deletion: :p.R393Sfs*50 (human) ClinVar Annotator: match by term: Primary autosomal recessive microcephaly DNA:mutations:exon, intron:multiple |
ClinVar |
PMID:25741868, PMID:22775483, PMID:20978018 |
RGD:13204748, RGD:13204750 |
NCBI chr16:75,904,087...76,110,624
Ensembl chr16:75,904,006...76,110,553
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Wdr62 |
WD repeat domain 62 |
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ISO |
DNA:duplication:cds: c.2527dupG (p.D843GfsX3)(human) ClinVar Annotator: match by term: Primary autosomal recessive microcephaly DNA:missense mutation:cds:c.1198G> A(p.E400K)(human) |
ClinVar |
PMID:20729831 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 PMID:25741868 PMID:28756000, PMID:25303973, PMID:22308068 |
RGD:11541051, RGD:11541056 |
NCBI chr 1:90,995,545...91,034,592
Ensembl chr 1:88,694,824...88,734,223
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Angpt2 |
angiopoietin 2 |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 1 |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 |
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NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
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Aspm |
assembly factor for spindle microtubules |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 1 |
ClinVar |
PMID:18414213 PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 PMID:29644084 |
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NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
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Cenpj |
centromere protein J |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 1 |
ClinVar |
PMID:12843329 PMID:15793586 PMID:22775483 PMID:25741868 |
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NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
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Mcph1 |
microcephalin 1 |
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ISO |
ClinVar Annotator: match by OMIM:251200 ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 1 DNA:insertion:exon:c.427insA (human) |
ClinVar OMIM |
PMID:7693575 PMID:11857108 PMID:12046007 PMID:15199523 PMID:16311745 PMID:16783362 PMID:18414213 PMID:20101680 PMID:20949544 PMID:20978018 PMID:22139841 PMID:22154951 PMID:22908299 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532, PMID:15199523 |
RGD:9589022 |
NCBI chr16:75,904,087...76,110,624
Ensembl chr16:75,904,006...76,110,553
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Zfp335 |
zinc finger protein 335 |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 ClinVar Annotator: match by OMIM:615095 |
OMIM ClinVar |
PMID:23178126 PMID:25741868 PMID:27540107 PMID:28327206 PMID:29652087 |
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NCBI chr 3:161,357,201...161,378,073
Ensembl chr 3:161,357,278...161,376,119
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Phc1 |
polyhomeotic homolog 1 |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 11 ClinVar Annotator: match by OMIM:615414 |
OMIM ClinVar |
PMID:23418308 PMID:25558065 PMID:25741868 |
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NCBI chr 4:155,093,947...155,118,838
Ensembl chr 4:155,093,949...155,116,154
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Cdk6 |
cyclin-dependent kinase 6 |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 12 |
ClinVar OMIM |
PMID:23918663 |
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NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
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Cenpe |
centromere protein E |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 13 |
ClinVar OMIM |
PMID:24748105 PMID:25741868 |
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NCBI chr 2:240,395,974...240,454,785
Ensembl chr 2:240,396,152...240,454,747
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Sass6 |
SAS-6 centriolar assembly protein |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 14 |
ClinVar OMIM |
PMID:24951542 PMID:30639237 |
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NCBI chr 2:219,626,851...219,660,975
Ensembl chr 2:219,628,695...219,652,968
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Mfsd2a |
major facilitator superfamily domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 15 |
ClinVar OMIM |
PMID:26005868 PMID:30043326 |
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NCBI chr 5:140,642,865...140,657,759
Ensembl chr 5:140,642,885...140,657,745
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Ankle2 |
ankyrin repeat and LEM domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive |
OMIM ClinVar |
PMID:23806086 PMID:24088041 PMID:25259927 PMID:25741868 PMID:30214071 |
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NCBI chr12:52,475,862...52,507,126
Ensembl chr12:52,475,863...52,507,126
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Cit |
citron rho-interacting serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive |
ClinVar OMIM |
PMID:25741868 PMID:27453578 PMID:27453579 PMID:27503289 PMID:27519304 PMID:28492532 |
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NCBI chr12:46,334,669...46,494,152
Ensembl chr12:46,334,665...46,494,174
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Copb2 |
COPI coat complex subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE |
ClinVar OMIM |
PMID:29036432 |
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NCBI chr 8:106,582,339...106,603,763
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Wdr62 |
WD repeat domain 62 |
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ISO |
ClinVar Annotator: match by OMIM:604317 ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 ClinVar Annotator: match by term: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations DNA:nonsense, insertion, missense mutations:cds:c.1942 C>T,c.3936_3937insC, c.1313G>A,c.1531G>A(human) DNA:mutation:cds:c.390G > A(human) DNA:insertion,nonsense mutations:exons:c.535_536insA,c.900C>A(p.C300X)(human) |
ClinVar OMIM |
PMID:10573015 PMID:18414213 PMID:20729831 PMID:20890278 PMID:20890279 PMID:21834044 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 PMID:25741868 PMID:26077850 PMID:26467025 PMID:28377545 PMID:28492532 PMID:28756000, PMID:21961505, PMID:26577670, PMID:21496009 |
RGD:11537475, RGD:11537473, RGD:11537472 |
NCBI chr 1:90,995,545...91,034,592
Ensembl chr 1:88,694,824...88,734,223
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Kif14 |
kinesin family member 14 |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE |
ClinVar OMIM |
PMID:25741868 PMID:28892560 PMID:29343805 |
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NCBI chr13:53,350,073...53,421,992
Ensembl chr13:53,351,717...53,420,111
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Ncapd2 |
non-SMC condensin I complex, subunit D2 |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE |
ClinVar OMIM |
PMID:27737959 |
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NCBI chr 4:157,682,855...157,705,903
Ensembl chr 4:157,683,077...157,704,596
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G |
Ncapd3 |
non-SMC condensin II complex, subunit D3 |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE |
ClinVar OMIM |
PMID:27737959 |
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NCBI chr 8:28,075,629...28,145,024
Ensembl chr 8:28,075,551...28,144,741
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Ncaph |
non-SMC condensin I complex, subunit H |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE |
ClinVar OMIM |
PMID:27737959 |
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NCBI chr 3:119,583,798...119,611,148
Ensembl chr 3:119,583,648...119,611,136
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Nup37 |
nucleoporin 37 |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE |
OMIM ClinVar |
PMID:25741868 PMID:30179222 |
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NCBI chr 7:28,715,299...28,750,978
Ensembl chr 7:28,701,690...28,743,326
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Trappc14 |
trafficking protein particle complex 14 |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE |
OMIM ClinVar |
PMID:30715179 |
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NCBI chr12:19,577,895...19,582,185
Ensembl chr12:19,573,893...19,582,208
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Cdk5rap2 |
CDK5 regulatory subunit associated protein 2 |
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ISO |
ClinVar Annotator: match by OMIM:604804 ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 3 DNA:nonsense mutation:exon:243T>A(p.S81X)(human) DNA:nonsense mutation:exon: c.4441C>T (p.R1481X)(human) |
ClinVar OMIM |
PMID:10677332 PMID:15793586 PMID:17764569 PMID:18414213 PMID:22887808 PMID:23726037 PMID:23995685 PMID:25326637 PMID:25741868 PMID:27391121 PMID:27761245 PMID:28004182 PMID:28492532, PMID:17764569, PMID:23587236 |
RGD:13450905, RGD:11057920 |
NCBI chr 5:86,387,238...86,554,108
Ensembl chr 5:86,387,078...86,554,102
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LOC100911204 |
protein CASC5-like |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 4 |
OMIM ClinVar |
PMID:10521316 PMID:18414213 PMID:22983954 PMID:25741868 PMID:26626498 PMID:27149178 PMID:28492532 |
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NCBI chr 3:112,531,429...112,560,698
Ensembl chr 3:112,531,703...112,560,634
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Aspm |
assembly factor for spindle microtubules |
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ISO |
ClinVar Annotator: match by OMIM:608716 ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 5 |
ClinVar OMIM |
PMID:11067780 PMID:12355089 PMID:14574646 PMID:15355437 PMID:16141009 PMID:16673149 PMID:18414213 PMID:18452193 PMID:19028728 PMID:19332161 PMID:19770472 PMID:20301772 PMID:20679666 PMID:22823409 PMID:22989186 PMID:23611254 PMID:24033266 PMID:25480035 PMID:25525159 PMID:25741868 PMID:25786579 PMID:26467025 PMID:26548919 PMID:27250695 PMID:28492532 PMID:28554332 PMID:29243349 PMID:29522511 PMID:29644084 PMID:29706646 |
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NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
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Slc26a4 |
solute carrier family 26 member 4 |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 5 |
ClinVar |
PMID:12676893 PMID:19287372 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
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Cenpj |
centromere protein J |
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ISO |
ClinVar Annotator: match by OMIM:608393 ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 6 |
ClinVar OMIM |
PMID:12843329 PMID:15793586 PMID:16900296 PMID:18414213 PMID:20978018 PMID:22775483 PMID:24402816 PMID:25741868 PMID:26467025 PMID:26752647 PMID:28492532 |
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NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
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Rnf17 |
ring finger protein 17 |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 6 |
ClinVar |
PMID:15793586 PMID:18414213 PMID:24402816 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:36,609,348...36,744,750
Ensembl chr15:36,609,296...36,744,762
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Stil |
STIL, centriolar assembly protein |
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ISO |
ClinVar Annotator: match by OMIM:612703 ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 7 |
ClinVar OMIM |
PMID:18414213 PMID:19215732 PMID:22989186 PMID:23772360 PMID:25218063 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532 PMID:33132204 |
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NCBI chr 5:133,819,302...133,851,362
Ensembl chr 5:133,819,726...133,851,416
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Cep135 |
centrosomal protein 135 |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 8 ClinVar Annotator: match by OMIM:614673 |
OMIM ClinVar |
PMID:22521416 PMID:25741868 PMID:26657937 PMID:28492532 |
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NCBI chr14:34,052,168...34,115,763
Ensembl chr14:34,051,003...34,115,273
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Cep152 |
centrosomal protein 152 |
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ISO |
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 9 ClinVar Annotator: match by OMIM:614852 ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive |
OMIM ClinVar |
PMID:18414213 PMID:20598275 PMID:21131973 PMID:25741868 PMID:25996639 PMID:28492532 |
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NCBI chr 3:117,822,799...117,894,856
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