Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.P627Splc
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KIT

NM_000222.3:p.P627Splc

Associated Papers

Molecular genetic analysis of colorectal carcinoma with an aggressive extraintestinal immunohistochemical phenotype.

Hrudka J et al.

Scientific Reports, 2024

39333321 (PubMed )
Supplement: 41598_2024_72687_MOESM2_ESM.xlsx › 11

Novel Germline KIT Variants in Families With Severe Piebaldism: Case Series and Literature Review.

Zhang Y et al.

Journal of Clinical Laboratory Analysis, 2024

Report of two Japanese patients with piebaldism including a novel mutation in KIT.

Nagatani K et al.

The Journal of Dermatology, 2021

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."