Associated Papers
Prevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis.
Sun X et al.
British Journal of Haematology, 2025
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
Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.
Cattaneo D et al.
Frontiers in Oncology, 2021
33791220 (PubMed )
Supplement: Data_Sheet_1.pdf
KIT-related piebaldism in a Chinese girl.
Zhu L et al.
American Journal of Medical Genetics. Part A, 2020
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R et al.
Molecular Genetics & Genomic Medicine, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table19.xlsx › SI_Table_19
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
27313609 (PubMed )
Supplement: 5614058.f1.pdf
Genetic variation at KIT locus may predispose to melanoma.
Bourillon A et al.
Pigment Cell & Melanoma Research, 2013
Molecular characterization of two novel KIT mutations in patients with piebaldism.
Wasag B et al.
Journal of Dermatological Science, 2012
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