Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.R822S
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PDGFRA

NM_006206.6:p.R822S

Associated Papers

Dysregulated PDGFR alpha expression and novel somatic mutations in colorectal cancer: association to RAS wild type status and tumor size.

Ben Jemii N et al.

Journal of Translational Medicine, 2020

High-resolution melting analysis is a sensitive diagnostic tool to detect imatinib-resistant and imatinib-sensitive PDGFRA exon 18 mutations in gastrointestinal stromal tumors.

Künstlinger H et al.

Human Pathology, 2014

Gastrointestinal stromal tumor with KIT mutation in neurofibromatosis type 1.

Namgung H

Journal of the Korean Surgical Society, 2011

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.

Maertens O et al.

Human Molecular Genetics, 2006

Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases.

Miettinen M et al.

The American Journal of Surgical Pathology, 2006

[c-kit and PDGFRA mutations in 60 cases of gastrointestinal stromal tumors (GISTs)].

He HY et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2005

Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausen's disease).

Takazawa Y et al.

The American Journal of Surgical Pathology, 2005

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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."