Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.F584L
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KIT

NM_000222.3:p.F584L

Associated Papers

KIT-related piebaldism in a Chinese girl.

Zhu L et al.

American Journal of Medical Genetics. Part A, 2020

Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation.

Nagaputra JC et al.

Jaad Case Reports, 2018

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

McDonell LM et al.

Human Molecular Genetics, 2015

Novel mutations of KIT gene in two Korean patients: variegated shades of phenotypes in tyrosine kinase 1 domain.

Lee H et al.

Journal of Dermatological Science, 2014

Specific analysis of KIT and PDGFR-alpha expression and mutational status in Merkel cell carcinoma.

Swick BL et al.

Journal of Cutaneous Pathology, 2013

Spectrum of mutations in gastrointestinal stromal tumor patients - a population-based study from Slovakia.

Minárik G et al.

Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica, 2013

Piebaldism.

Oiso N et al.

The Journal of Dermatology, 2013

Screening of the c-kit gene missense mutation in invasive ductal carcinoma of breast among north Indian population.

Hussain SR et al.

Molecular Biology Reports, 2012

Screening of C-kit gene Mutation in Acute Myeloid Leukaemia in Northern India.

Hussain SR et al.

Iranian Journal of Cancer Prevention, 2012

The energy landscape analysis of cancer mutations in protein kinases.

Dixit A et al.

Plos One, 2011

21998754 (PubMed )
Supplement: pone.0026071.s009.doc

Exploring the cause of drug resistance by the detrimental missense mutations in KIT receptor: computational approach.

Rajasekaran R et al.

Amino Acids, 2010

Identification of c-kit gene mutations in primary adenoid cystic carcinoma of the salivary gland.

Vila L et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2009

Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.

Haase B et al.

Plos Genetics, 2007

17997609 (PubMed )
Supplement: pgen.0030195.sg002.pdf

Recent advances in the understanding of mastocytosis: the role of KIT mutations.

Orfao A et al.

British Journal of Haematology, 2007

Three novel mutations of the proto-oncogene KIT cause human piebaldism.

Syrris P et al.

American Journal of Medical Genetics, 2000

KIT protein expression and analysis of c-kit gene mutation in adenoid cystic carcinoma.

Holst VA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 1999

Lack of Response to Imatinib in Melanoma Carrying Rare KIT Mutation p.T632I.

Orlova KV et al.

Case Reports in Oncology, 0

31043947 (PubMed )
Supplement: cro-0012-0109-s01.pdf
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