Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.V620A
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KIT

NM_000222.3:p.V620A

Associated Papers

Compensatory gene expression potentially rescues impaired brain development in Kit mutant mice.

Minei R et al.

Scientific Reports, 2023

Assessing the Activation of Tyrosine Kinase KIT through Free Energy Calculations.

Sandoval-Pérez A et al.

Journal of Chemical Theory and Computation, 2022

KIT-related piebaldism in a Chinese girl.

Zhu L et al.

American Journal of Medical Genetics. Part A, 2020

Recent advances in the understanding of mastocytosis: the role of KIT mutations.

Orfao A et al.

British Journal of Haematology, 2007

New mutations of KIT gene in two Chinese patients with piebaldism.

Lin ZM et al.

The British Journal of Dermatology, 2006

Mice transgenic for Kit(V620A): recapitulation of piebaldism but not progressive depigmentation seen in humans with this mutation.

Tosaki H et al.

The Journal of Investigative Dermatology, 2006

"Out, damned spot!".

Spritz RA

The Journal of Investigative Dermatology, 2006

A novel KIT mutation results in piebaldism with progressive depigmentation.

Richards KA et al.

Journal of the American Academy of Dermatology, 2001

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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."