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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDGFRA

Variant:p.S478del1

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PDGFRA

NM_006206.6:p.S478del1

hg38:chr4:54273602 ACTC>A

Associated Papers

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.

Schipani A et al.

Genes, 2023

36980917 (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."