Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.L317F
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POU3F4

NM_000307.5:p.L317F

Associated Papers

A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss.

Huang BQ et al.

Journal of Otology, 2015

Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in DFNX2 deafness irrespective of types of mutations.

Choi BY et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2013

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

Choi BY et al.

Human Mutation, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."