تصفح حسب الموضوع "CDK5RAP2"
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Congenital microcephaly-linked CDK5RAP2 affects eye development
( Wiley , 2020 , Article)Biallelic mutations in the cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2 cause autosomal recessive primary microcephaly type 3 (MCPH3). MCPH is characterized by intellectual disability and ...