Associated Papers
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_6_KIT_pathogenecity.xlsx › Sheet2_SIFT
The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.
Tsantikidi A et al.
Diagnostics (basel, Switzerland), 2023
37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed
KIT-related piebaldism in a Chinese girl.
Zhu L et al.
American Journal of Medical Genetics. Part A, 2020
[Analysis of KIT mutations in five patients from two Han Chinese pedigrees affected with Piebaldism].
Lai Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.
Chou WC et al.
International Journal of Biological Sciences, 2016
27994516 (PubMed )
Supplement: ijbsv12p1523s2.pdf
Recent advances in the understanding of mastocytosis: the role of KIT mutations.
Orfao A et al.
British Journal of Haematology, 2007
Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts.
Bondanza S et al.
The Journal of Investigative Dermatology, 2007
New mutations of KIT gene in two Chinese patients with piebaldism.
Lin ZM et al.
The British Journal of Dermatology, 2006
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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