Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.T1999S
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MYO7A

NM_000260.4:p.T1999S

Associated Papers

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Bonnet C et al.

Orphanet Journal of Rare Diseases, 2011

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

Oshima A et al.

Human Mutation, 2008

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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."