Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.P832L
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KIT

NM_000222.3:p.P832L

Associated Papers

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

Wang C et al.

Frontiers in Medicine, 2022

KIT-related piebaldism in a Chinese girl.

Zhu L et al.

American Journal of Medical Genetics. Part A, 2020

Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C-terminus of KIT.

Takeichi T et al.

The British Journal of Dermatology, 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

Piebaldism.

Oiso N et al.

The Journal of Dermatology, 2013

A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.

Yang YJ et al.

Biomed Research International, 2013

A Japanese piebald patient with auburn hair colour associated with a novel mutation p.P832L in the KIT gene and a homozygous variant p.I120T in the MC1R gene.

Oiso N et al.

The British Journal of Dermatology, 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."