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Article

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2014

Vona Barbara, Müller Tobias, Nanda Indrajit, Neuner Cordula, Hofrichter Michaela A H, Schröder Jörg, Bartsch Oliver, Läßig Anne, Keilmann Annerose, Schraven Sebastian, Kraus Fabian, Shehata-Dieler Wafaa, Haaf Thomas

Abstract excerpt

PURPOSE: Targeted next-generation sequencing provides a remarkable opportunity to identify variants in known disease genes, particularly in extremely heterogeneous disorders such as nonsyndromic hearing loss. The present study attempts to shed light on the complexity of hearing impairment. METHODS: Using one of two next-generation sequencing panels containing either 80 or 129 deafness genes, we screened 30...

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Identifiers

PMID: 24875298
DOI: 10.1038/gim.2014.65
PMCID: PMC4262760

Genes

GJB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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