Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.Q1250_A1251Splc
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MYO7A

NM_000260.4:p.Q1250_A1251Splc

Associated Papers

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

Rizel L et al.

Molecular Vision, 2011

Two Finnish USH1B patients with three novel mutations in myosin VIIA.

Vastinsalo H et al.

Molecular Vision, 2006

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.

Lévy G et al.

Human Molecular Genetics, 1997

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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."