Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.Y283N
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TRPV4

NM_021625.5:p.Y283N

Associated Papers

Ion Channel Genes in Painful Neuropathies.

Ślęczkowska M et al.

Biomedicines, 2023

Familial trigeminal neuralgia - a systematic clinical study with a genomic screen of the neuronal electrogenisome.

Di Stefano G et al.

Cephalalgia : an International Journal of Headache, 2020

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Gomes CC et al.

Nature Communications, 2018

Whole-exome sequencing for variant discovery in blepharospasm.

Tian J et al.

Molecular Genetics & Genomic Medicine, 2018

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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."