Varaico: Literature-Extracted Genetic Variants

Gene:TRPV3
Variant:p.M672I
Back to variants list

TRPV3

NM_145068.4:p.M672I

Associated Papers

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

Mo R et al.

Journal of Dermatological Science, 2024

Pathogenesis and management of TRPV3-related Olmsted syndrome.

Lu A et al.

Frontiers in Genetics, 2024

[Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome].

Lu J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

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

Chiu FP et al.

Clinical and Experimental Dermatology, 2020

A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome.

Ni C et al.

Scientific Reports, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."