Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.P531H
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EPAS1

NM_001430.5:p.P531H

Associated Papers

Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome.

Cole Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

EPAS1-related pheochromocytoma/paraganglioma.

Alzahrani AS et al.

Endocrine-related Cancer, 2024

EPAS1-mutated paragangliomas associated with haemoglobin disorders.

Mancini M et al.

British Journal of Haematology, 2024

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Ma X et al.

Frontiers in Endocrinology, 2022

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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."