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Article

Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation.

Human mutation - 1 Feb 2013

Choi Byung Yoon, Kim Do-Hwan, Chung Taesu, Chang Mi, Kim Eun-Hye, Kim Ah Reum, Seok Jungirl, Chang Sun O, Bok Jinwoong, Kim Dongsup, Oh Seung-Ha, Park Woong-Yang

Abstract excerpt

Most X-linked nonsyndromic hearing loss is caused by various types of mutations of the POU domain class 3 transcription factor 4 gene (POU3F4). We found five unique missense and frameshift truncation and extension mutations in Korean patients. Two missense mutations (p.Thr211Met and p.Gln229Arg)...

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PMID: 23076972
DOI: 10.1002/humu.22232

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23076972-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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