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Article

Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.

Clinical genetics - 1 May 2013

Gao J, Xue J, Chen Li, Ke X, Qi Y, Liu Y

Abstract excerpt

We report the genetic analysis of a Chinese family with autosomal dominant non-syndromic progressive sensorineural hearing loss. Taking advantage of next-generation high-throughput DNA sequencing technology, we combined whole exome capture sequencing with Sanger direct sequencing. A novel missense mutation in the coagulation factor C homolog (COCH) gene was identified in a consanguineous Chinese family. This...

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Source

Identifiers

PMID: 22931125
DOI: 10.1111/cge.12006

Genes

COCH

Variants

Provenance

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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