Varaico: Literature-Extracted Genetic Variants

Gene:TRPV3
Variant:p.Q580P
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TRPV3

NM_145068.4:p.Q580P

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

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

A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.

He Y et al.

The Journal of Investigative Dermatology, 2015

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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."