Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.D40V
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MYO7A

NM_000260.4:p.D40V

Associated Papers

Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.

Pauw RJ et al.

The Annals of Otology, Rhinology, and Laryngology, 2011

Vestibular function in families with inherited autosomal dominant hearing loss.

Street VA et al.

Journal of Vestibular Research : Equilibrium & Orientation, 2008

Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.

Usami S et al.

European Journal of Human Genetics : Ejhg, 2003

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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."