Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.K801E
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TRPV4

NM_021625.5:p.K801E

Associated Papers

Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia.

Hines SL et al.

Molecular Genetics & Genomic Medicine, 2019

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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."