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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KIT

Variant:p.S501_A502insAF

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KIT

NM_000222.3:p.S501_A502insAF

hg38:chr4:54726011 T>TNNNNNN

Associated Papers

Comparison of lesional skin c-KIT mutations with clinical phenotype in patients with mastocytosis.

Chan IJ et al.

Clinical and Experimental Dermatology, 2018

29350409 (PubMed )

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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."