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Article

Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.

PloS one - 1 Jan 2011

Wang Jian, Fan Ying-ying, Wang Shu-juan, Liang Peng-Fei, Wang Jin-ling, Qiu Jian-hua

Abstract excerpt

BACKGROUND: Mutations in OTOF and PJVK genes cause DFNB9 and DFNB59 types of hearing loss, respectively. The patients carrying pathogenic mutations in either of these genes may show the typical phenotype of auditory neuropathy spectrum disorder (ANSD). The aim of the present study was to identify OTOF and PJVK mutations in sporadic ANSD patients. METHODS AND FINDINGS: A total of 76 unrelated Chinese non-syndromic...

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Source

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Identifiers

PMID: 21935370
DOI: 10.1371/journal.pone.0024000
PMCID: PMC3174136

Genes

OTOF
PJVK

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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