Article

A Severe Neurodevelopmental Syndrome Linked to a South Asian Founder Variant in the UFMylation Adaptor CDK5RAP3

2026-04-01

Abstract excerpt

<title>Abstract</title> <p> We investigated the pathogenicity of a homozygous intronic variant in <italic>CDK5RAP3</italic> , a key UFMylation adapter, in three individuals from two unrelated families with a lethal neurodevelopmental disorder. <italic>CDK5RAP3</italic> variants have not been linked to human disorders to date, however, murine <italic>Cdk5rap3</italic> knock-out is embryonic lethal and varia...

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Literature Corpus work: 191379e7-9da3-5434-94ed-13e6d52546ee
DOI: 10.21203/rs.3.rs-9256354/v1

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