Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.Q347*
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KIT

NM_000222.3:p.Q347*

Associated Papers

Piebaldism with café-au-lait macules resulting from a novel mutation of KIT gene in a three-generation Chinese family.

Li X et al.

Skin Research and Technology : Official Journal of International Society for Bioengineering and the Skin (isbs) [and] International Society for Digital Imaging of Skin (isdis) [and] International Society for Skin Imaging (issi), 2023

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

Molecular pathology of NEU1 gene in sialidosis.

Seyrantepe V et al.

Human Mutation, 2003

Human piebaldism: six novel mutations of the proto-oncogene KIT.

Syrris P et al.

Human Mutation, 2002

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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."