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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPAS1

Variant:p.Y532N

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EPAS1

NM_001430.5:p.Y532N

hg38:chr2:46380266 T>A

Associated Papers

Genetic Analysis of Pheochromocytoma and Paraganglioma Complicating Cyanotic Congenital Heart Disease.

Ogasawara T et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

35730597 (PubMed )

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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."