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Non-coding variants upstream ofMEF2Ccause severe developmental disorder through three distinct loss-of-function mechanisms

2020-11-16

Abstract excerpt

Clinical genetic testing of protein-coding regions identifies a likely causative variant in only ∼35% of severe developmental disorder (DD) cases. We screened 9,858 patients from the Deciphering Developmental Disorders (DDD) study for de novo mutations in the 5’untranslated regions (5’UTRs) of dominant haploinsufficient DD genes. We identify four single nucleotide variants and two copy number variants upstream of...

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Literature Corpus work: f27a40cc-7ba4-5cbf-8480-26208cae3442
DOI: 10.1101/2020.11.15.20229807

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Non-coding variants upstream of<i>MEF2C</i>cause severe developmental disorder through three distinct loss-of-function mechanisms

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