Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.R817C
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PDGFRA

NM_006206.6:p.R817C

Associated Papers

Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.

Rostami MR et al.

Molecular Therapy. Methods & Clinical Development, 2023

38089635 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_II

Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.

Liang Y et al.

Plos Genetics, 2022

36095024 (PubMed )
Supplement: pgen.1010373.s023.xlsx › S8_Table

Mutational Profiling of Driver Tumor Suppressor and Oncogenic Genes in Brazilian Malignant Pleural Mesotheliomas.

Campanella NC et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2020

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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."