Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.V562I
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TRPV4

NM_021625.5:p.V562I

Associated Papers

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C et al.

Cell Reports, 2015

Exome sequencing identifies early gastric carcinoma as an early stage of advanced gastric cancer.

Kang G et al.

Plos One, 2013

24376576 (PubMed )
Supplement: pone.0082770.s002.xls › S2

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.

Chen DH et al.

Neurology, 2010

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