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Bi-allelic variants inCHKAcause a neurodevelopmental disorder with epilepsy and microcephaly
Download from academic.oup.comIn cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas
Download from www.nature.comGermline AGO2 mutations impair RNA interference and human neurological development
Download from www.nature.comDefining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
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