Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.P1183T
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MYO7A

NM_000260.4:p.P1183T

Associated Papers

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Neuhaus C et al.

Molecular Genetics & Genomic Medicine, 2017

Structures of usher syndrome 1 proteins and their complexes.

Pan L et al.

Physiology (bethesda, Md.), 2012

Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.

Wu L et al.

Science (new York, N.y.), 2011

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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."