Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.Q346L
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KIT

NM_000222.3:p.Q346L

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

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

Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.

Brooks SA et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2005

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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."