Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.S709A
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KIT

NM_000222.3:p.S709A

Associated Papers

Pathogenic and diagnostic relevance of KIT in primary mast cell activation disorders.

Muñoz-González JI et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2021

High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer.

Tan IB et al.

Genome Biology, 2015

25808843 (PubMed )
Supplement: 13059_2015_589_MOESM4_ESM.pdf

Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.

Haenisch B et al.

Immunology, 2012

Comparative analysis of mutation of tyrosine kinase kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects.

Molderings GJ et al.

Immunogenetics, 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."