Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.P653L
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PDGFRA

NM_006206.6:p.P653L

Associated Papers

Diagnosis, Treatment, and Prognosis of Patients with Primary Familial Gastrointestinal Stromal Tumor: A Case Report and Literature Review.

Yan M et al.

The Oncologist, 2023

37311038 (PubMed )
Supplement: oyad168_suppl_supplementary_table_s1.docx

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

PDGF receptor mutations in human diseases.

Guérit E et al.

Cellular and Molecular Life Sciences : Cmls, 2021

The genetic landscape of gliomas arising after therapeutic radiation.

López GY et al.

Acta Neuropathologica, 2019

Telocytes are the physiological counterpart of inflammatory fibroid polyps and PDGFRA-mutant GISTs.

Ricci R et al.

Journal of Cellular and Molecular Medicine, 2018

Familial PDGFRA-mutation syndrome: somatic and gastrointestinal phenotype.

Manley PN et al.

Human Pathology, 2018

Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas.

Kline CN et al.

Neuro-oncology, 2016

PDGFRA-mutant syndrome.

Ricci R et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2015

Divergent gastrointestinal stromal tumors in syndromic settings.

Ricci R et al.

Cancer Genetics, 0

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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."