Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.E583D
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KIT

NM_000222.3:p.E583D

Associated Papers

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

Zhang Y et al.

Journal of Clinical Laboratory Analysis, 2024

Novel somatic Missense Mutations in Exon 11 of the KIT Gene are Detected in Melanoma.

Palkina N et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

KIT-related piebaldism in a Chinese girl.

Zhu L et al.

American Journal of Medical Genetics. Part A, 2020

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

Nagaputra JC et al.

Jaad Case Reports, 2018

Novel mutations of KIT gene in two Korean patients: variegated shades of phenotypes in tyrosine kinase 1 domain.

Lee H et al.

Journal of Dermatological Science, 2014

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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."