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

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He Y, Zeng K, Zhang X, Chen Q, Wu J, Li H, Zhou Y, Glusman G, Roach J, Etheridge A, Qing S, Tian Q, Lee I, Tian X, Wang X, Wu Z, Hood L, Ding Y, Wang K

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

J Invest Dermatol. 2015 Mar;135(3):907-9. doi: 10.1038/jid.2014.429. Epub 2014 Oct 6.

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25285920 [ View in PubMed
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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Transient receptor potential cation channel subfamily V member 3Q8NET8Details