Article

Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity, leads to neurodevelopmental disorder and obesity.

2024-07-19

Abstract excerpt

<title>Abstract</title> RNA-binding proteins play a key role in post-transcriptional events, such as mRNA splicing, transport, stability, translation and decay. Dysregulation of RNA life can have dramatic consequences. CELF RNA-binding proteins appear to be essential during embryo development. In this study, we identified fifteen patients with heterozygous missense or loss-of-function variants in the <italic>C...

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Literature Corpus work: b6107ae7-119e-51d8-a7f7-418022af55bc
DOI: 10.21203/rs.3.rs-4610126/v1

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