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Article

A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.

Journal of applied genetics - 1 Aug 2015

Hassan Mohamed Ahamed, Shah Aftab Ali, Szmida Elzbieta, Smigiel Robert, Sasiadek Maria M, Pfister Markus, Blin Nikolaus, Bress Andreas

Abstract excerpt

After excluding frequent mutations in common genes like GJB2, SLC26A4 and MT-RNR1 by straightforward Sanger sequencing in about 20 Polish families with hearing impairment, new and possibly pathogenic mutations were searched for by next-generation sequencing (NGS) screening using a specialised panel including more than 80 genes connected with hearing disorders. Due to high rates of false-positive pathogen...

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Source

Identifiers

PMID: 25560804
DOI: 10.1007/s13353-014-0263-4

Genes

TMC1
GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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