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Comprehensive simulation and interpretation of single nucleotide substitutions in <i>GJB2</i> reveals the genetic and phenotypic landscape of <i>GJB2</i> -related hearing loss

2021-10-01

Abstract excerpt

Genetic variants in the GJB2 gene are the most frequent causes of congenital and childhood hearing loss worldwide. In addition to nonsyndromic hearing loss, GJB2 pathogenic variants are also correlated with syndromic phenotypes, showing high genetic and phenotypic heterogeneity. To comprehensively delineate the genetic and phenotypic landscape of GJB2 variants, we interpreted and manually curated all the 2043 p...

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Literature Corpus work
c7f856fd-3ba0-5eec-b332-a3a9a9711a25
DOI
10.1101/2021.09.30.462500
Open publication

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Comprehensive simulation and interpretation of single nucleotide substitutions in <i>GJB2</i> reveals the genetic and phenotypic landscape of <i>GJB2</i> -related hearing lossDOI 10.1101/2021.09.30.462500
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