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Deleterious, protein-altering variants in the X-linked transcriptional coregulator <i>ZMYM3</i> in 22 individuals with a neurodevelopmental delay phenotype

2022-09-30

Abstract excerpt

<h4>ABSTRACT</h4> Neurodevelopmental disorders (NDDs) often result from highly penetrant variation in one of many genes, including genes not yet characterized. Using the MatchMaker Exchange, we assembled a cohort of 22 individuals with rare, protein-altering variation in the X-linked transcriptional coregulator gene ZMYM3 . Most (n=19) individuals were males; 15 males had maternally-inherited alleles, three of the...

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Literature Corpus work
b58e79e1-4c7e-54b2-9209-e18fdf1af92d
DOI
10.1101/2022.09.29.22279724
Open publication

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Deleterious, protein-altering variants in the X-linked transcriptional coregulator <i>ZMYM3</i> in 22 individuals with a neurodevelopmental delay phenotypeDOI 10.1101/2022.09.29.22279724
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