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Article

Phenotype description of a novel DFNA9/COCH mutation, I109T.

The Annals of otology, rhinology, and laryngology - 1 May 2007

Pauw Robert J, Huygen Patrick L M, Collin Rob W J, Cruysberg Johannes R M, Hoefsloot Lies H, Kremer Hannie, Cremers Cor W R J

Abstract excerpt

OBJECTIVES: This is a report of the audiological and vestibular characteristics of a Dutch DFNA9 family with a novel mutation, I109T, in the LCCL domain of COCH. METHODS: From the family with the novel I109T COCH mutation, audiometric data were collected and analyzed longitudinally. Results were compared to those obtained in previously identified P51 S, G88E, and G87W COCH mutation carriers. Special attention was...

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Source

Identifiers

PMID: 17561763
DOI: 10.1177/000348940711600506

Genes

COCH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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