Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.H650P
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KIT

NM_000222.3:p.H650P

Associated Papers

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

RTK mutations and human syndromeswhen good receptors turn bad.

Robertson SC et al.

Trends in Genetics : Tig, 2000

Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.

Ezoe K et al.

American Journal of Human Genetics, 1995

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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."