Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.F10insFs
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KIT

NM_000222.3:p.F10insFs

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

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.

Schamschula E et al.

Biomolecules, 2022

36291559 (PubMed )
Supplement: biomolecules-12-01350-s001.zip › Figures_and_Tables › Tables_S1-S3.xlsx › Table_S2B

KIT-related piebaldism in a Chinese girl.

Zhu L et al.

American Journal of Medical Genetics. Part A, 2020

Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts.

Bondanza S et al.

The Journal of Investigative Dermatology, 2007

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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."