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A Common Founder Effect of the Splice Site Variant c.-23+1G>A in GJB2 Gene Causing Autosomal Recessive Deafness 1A (DFNB1A) in Eurasia

2021-07-07

Abstract excerpt

<title>Abstract</title> <p>The mutations in the <italic>GJB2</italic> gene are known to be a major cause of autosomal recessive deafness 1A (OMIM 220290). The most common pathogenic variants of the <italic>GJB2</italic> gene have high ethno-geographic specificity in their distribution that being attributed to a founder effect related with Neolithic migration routes of <italic>Homo sapiens</italic>. Curiously, the...

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Literature Corpus work
edd39735-7e03-56e0-acb6-d28ef7e32519
DOI
10.21203/rs.3.rs-670020/v1
Open publication

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