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Article

Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.

Human mutation - 1 Feb 2004

Gasmelseed Nagla M A, Schmidt Martin, Magzoub Mubarak M A, Macharia Muthure, Elmustafa Osman M, Ototo Benson, Winkler Enno, Ruge Gerd, Horstmann Rolf D, Meyer Christian G

Abstract excerpt

A large proportion of non-syndromic autosomal recessive deafness (NSARD) in many populations is caused by variants of the GJB2 gene. Here, the frequency of GJB2 variants was studied in 406 and 183 apparently unrelated children from Kenya and Sudan, respectively, with mostly severe to profound non...

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Source

Identifiers

PMID: 14722929
DOI: 10.1002/humu.9216

Genes

GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14722929-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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