All individuals with variants in gene CDK5RAP2

3 entries on 1 page. Showing entries 1 - 3.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

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Consanguinity     

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Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000019 - PubMed: Almomani 2011 - - - - - - 0 - - autism, BMD/DMD, TSC - 3 1 LOVD-team, but with Curator vacancy
00000029 - PubMed: Almomani 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00080838 - Trujillano et al., submitted unaffected parents - - - - - 0 - - MCPH-3 Microcephaly 3, primary, autosomal recessive (OMIM:604804) 1 1 Daniel Trujillano
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