Varaico: Literature-Extracted Genetic Variants

Gene:TRPV3
Variant:p.W692S
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TRPV3

NM_145068.4:p.W692S

Associated Papers

Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report.

Zhang J et al.

Frontiers in Medicine, 2025

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

Ion Channel Genes in Painful Neuropathies.

Ślęczkowska M et al.

Biomedicines, 2023

Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome.

Zhong W et al.

The Journal of Investigative Dermatology, 2021

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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."