Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.D576Y
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PDGFRA

NM_006206.6:p.D576Y

Associated Papers

A Rare PDGFRA Exon 15 Germline Mutation Identified in a Patient With Phenotypic Manifestations Concerning for GIST-Plus Syndrome: A Case Report and Review of Literature.

Wang C et al.

International Journal of Surgical Pathology, 2023

Familial PDGFRA-mutation syndrome: somatic and gastrointestinal phenotype.

Manley PN et al.

Human Pathology, 2018

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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."