Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.R658H
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EPAS1

NM_001430.5:p.R658H

Associated Papers

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.

Karaghiannis V et al.

Haematologica, 2023

Silent genetic alterations identified by targeted next-generation sequencing in pheochromocytoma/paraganglioma: A clinicopathological correlations.

Pillai S et al.

Experimental and Molecular Pathology, 2017

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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."