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Monoallelic variation in<i>DHX9</i>, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

2023-03-05

Abstract excerpt

DExD/H-box RNA helicases (DDX/DHX) are encoded by a large paralogous gene family; in a subset of these human helicase genes, pathogenic variation causes neurodevelopmental disorder (NDD) traits and cancer. DHX9 encodes a BRCA1-interacting nuclear helicase regulating transcription, R-loops, and homologous recombination and exhibits the highest mutational constraint of all DDX/DHX paralogs but remains without diseas...

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Literature Corpus work
901d6946-c82f-5fd1-91ca-7b796990301f
DOI
10.1101/2023.03.01.23286475
Open publication

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Monoallelic variation in<i>DHX9</i>, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth diseaseDOI 10.1101/2023.03.01.23286475
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