Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.E797A
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TRPV4

NM_021625.5:p.E797A

Associated Papers

Mutation of a putative S-nitrosylation site of TRPV4 protein facilitates the channel activates.

Lee EJ et al.

Animal Cells and Systems, 2011

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

Rock MJ et al.

Nature Genetics, 2008

TRPV4-mediated channelopathies.

Verma P et al.

Channels (austin, Tex.), 0

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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."