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: E583D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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: Glu583Asp

PubMed Link: 29693058

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page