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Article

Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct.

International journal of pediatric otorhinolaryngology - 1 Jul 2010

Guo Yu-Fen, Wang Yan-Li, Xu Bai-Cheng, Liu Xiao-Wen, Zhu Yi-Ming, Zhao Fei-Fan, Ji Yu-Bin, Zhou Ying, Li Jian-Qiang, Li Qian, Wang Da-Yong, Wang Qiu-Ju

Abstract excerpt

It is known that enlarged vestibular aqueduct syndrome is closely related to the SLC26A4 mutation. Up to date, more than 200 of SLC26A4 mutations have been described, and novel mutations are being continually identified in different countries and ethnic groups. In this study, two novel variations...

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PMID: 20483489
DOI: 10.1016/j.ijporl.2010.04.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20483489-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct.PMID 20483489Read ↗

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