Article

Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder

2025-09-18

Abstract excerpt

<title>Abstract</title> <p> Pathogenic variants of genes encoding initiation factors can cause neurological diseases, including neurodevelopmental disorders and brain abnormalities. The eukaryotic translation initiation factor 1A (eIF1A), is an X-linked ( <italic>EIF1AX</italic> ) gene located at Xp22.12 that plays an important role in the regulation of translation initiation. Here, we identified <italic>de n...

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Literature Corpus work: 85839d36-19b1-5a3f-b27b-e98061e9b84d
DOI: 10.21203/rs.3.rs-7289882/v1

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