Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.K364M
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EPAS1

NM_001430.5:p.K364M

Associated Papers

Case Report: A novel EPAS1 mutation in a case of paraganglioma complicated with polycythemia and atrial septal defect.

Yang H et al.

Frontiers in Endocrinology, 2023

Identification of Novel Mutations and Expressions of EPAS1 in Phaeochromocytomas and Paragangliomas.

Islam F et al.

Genes, 2020

Molecular Deregulation of EPAS1 in the Pathogenesis of Esophageal Squamous Cell Carcinoma.

Islam F et al.

Frontiers in Oncology, 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."