Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.H40Q
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KIT

NM_000222.3:p.H40Q

Associated Papers

Comprehensive molecular profiling of pulmonary pleomorphic carcinoma.

Nagano M et al.

Npj Precision Oncology, 2021

34158601 (PubMed )
Supplement: 41698_2021_201_MOESM2_ESM.xlsx › Supplementary_Table_1

A novel KIT variant in an Icelandic horse with white-spotted coat colour.

Haase B et al.

Animal Genetics, 2015

26059442 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.

Hauswirth R et al.

Animal Genetics, 2013

23659293 (PubMed )
Supplement: supplement_1.pdf

Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.

Hauswirth R et al.

Plos Genetics, 2012

Genetic heterogeneity and selection signature at the KIT gene in pigs showing different coat colours and patterns.

Fontanesi L et al.

Animal Genetics, 2010

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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."