Varaico: Literature-Extracted Genetic Variants

Gene:TRPV3
Variant:p.A675T
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TRPV3

NM_145068.4:p.A675T

Associated Papers

The cumulative effect of compound heterozygous variants in TRPV3 caused Olmsted syndrome.

Mo R et al.

Journal of Dermatological Science, 2024

Novel p.Ala675Thr missense mutation in TRPV3 in Olmsted syndrome.

Chiu FP et al.

Clinical and Experimental Dermatology, 2020

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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."