Publications:

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: F811V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation.

Jaad Case Reports

Nagaputra, Jerry C JC; Koh, Mark J A MJA; Brett, Maggie M; Lim, Eileen C P ECP; Lim, Hwee-Woon HW; Tan, Ene-Choo EC

Publication Date: 2018-05

Variant appearance in text: KIT: Phe811Val

PubMed Link: 29693058

Variant Present in the following documents:

• Main text
• main.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: KIT: F811V

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling.

Therapeutics And Clinical Risk Management

Jia, Wei-Xue WX; Xiao, Xue-Min XM; Wu, Jian-Bing JB; Ma, Yi-Ping YP; Ge, Yi-Ping YP; Li, Qi Q; Mao, Qiu-Xia QX; Li, Cheng-Rang CR

Publication Date: 2015

Variant appearance in text: KIT: 2431T>G

PubMed Link: 25960657

Variant Present in the following documents:

• Main text

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