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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRPV4

Variant:p.W785S

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TRPV4

NM_021625.5:p.W785S

hg38:chr12:109784420 C>G

Associated Papers

A novel TRPV4 variant in spondylometaphyseal dysplasia, kozlowski type reveals a previously unreported loss-of-function mechanism.

Wang H et al.

Orphanet Journal of Rare Diseases, 2025

41225599 (PubMed )

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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."