Varaico: Literature-Extracted Genetic Variants

Gene:TRPV3
Variant:p.L673F
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TRPV3

NM_145068.4:p.L673F

Associated Papers

Satisfactory clinical response to erlotinib in a patient with Olmsted syndrome.

Oktem A et al.

Clinical and Experimental Dermatology, 2025

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

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

Chiu FP et al.

Clinical and Experimental Dermatology, 2020

A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation.

Takeichi T et al.

Journal of Dermatological Science, 2017

The Ca2+-Permeable Cation Transient Receptor Potential TRPV3 Channel: An Emerging Pivotal Target for Itch and Skin Diseases.

Wang G et al.

Molecular Pharmacology, 2017

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

Ni C et al.

Scientific Reports, 2016

Expanding the Phenotypic Spectrum of Olmsted Syndrome.

Wilson NJ et al.

The Journal of Investigative Dermatology, 2015

Olmsted syndrome: clinical, molecular and therapeutic aspects.

Duchatelet S et al.

Orphanet Journal of Rare Diseases, 2015

Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations.

Duchatelet S et al.

The British Journal of Dermatology, 2014

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia.

Duchatelet S et al.

Jama Dermatology, 2014

TRPV3 Mutation-Associated Olmsted Syndrome in a Hispanic Patient: Response to Erlotinib and Review of Literature.

Arias-Berrios G et al.

Pediatric Dermatology, 0

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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."