Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.C58G
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KIT

NM_000222.3:p.C58G

Associated Papers

Piebaldism with café-au-lait macules resulting from a novel mutation of KIT gene in a three-generation Chinese family.

Li X et al.

Skin Research and Technology : Official Journal of International Society for Bioengineering and the Skin (isbs) [and] International Society for Digital Imaging of Skin (isdis) [and] International Society for Skin Imaging (issi), 2023

Novel pathogenic variants in KIT gene in three Chinese piebaldism patients.

Wang C et al.

Frontiers in Medicine, 2022

36438053 (PubMed )
Supplement: Table_1.XLSX › Sheet1

KIT-related piebaldism in a Chinese girl.

Zhu L et al.

American Journal of Medical Genetics. Part A, 2020

A novel KIT missense mutation in one Chinese family with piebaldism.

Yin XY et al.

Archives of Dermatological Research, 2009

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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."