Varaico: Literature-Extracted Genetic Variants

Gene:ANO1
Variant:p.D842V
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ANO1

NM_018043.7:p.D842V

Associated Papers

Dideoxy Sequencing Enhances Detection of KIT Mutations in Gastrointestinal Stromal Tumors Initially Evaluated by Next-Generation Sequencing Hotspot Panels.

Robinson L et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Whole-exome sequencing for high-risk primary prostatic extra-gastrointestinal stromal tumor: A case report.

Lu L et al.

Molecular and Clinical Oncology, 2021

Gastrointestinal stromal tumors (GISTs) and second malignancies: A novel "sentinel tumor"? A monoinstitutional, STROBE-compliant observational analysis.

Rodriquenz MG et al.

Medicine, 2016

Genetics of Gastrointestinal Stromal Tumors: A Heterogeneous Family of Tumors?

Patil DT et al.

Surgical Pathology Clinics, 2015

Gastrointestinal stromal tumor: recent advances in pathology and genetics.

Yamamoto H et al.

Pathology International, 2015

Activating PDGFRA mutations in inflammatory fibroid polyps occur in exons 12, 14 and 18 and are associated with tumour localization.

Huss S et al.

Histopathology, 2012

Increased PDGFRalpha activation disrupts connective tissue development and drives systemic fibrosis.

Olson LE et al.

Developmental Cell, 2009

Inflammatory fibroid polyps harbour mutations in the platelet-derived growth factor receptor alpha (PDGFRA) gene.

Schildhaus HU et al.

The Journal of Pathology, 2008

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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."