Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.I533_M535del0
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EPAS1

NM_001430.5:p.I533_M535del0

Associated Papers

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.

Comino-Méndez I et al.

Human Molecular Genetics, 2013

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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."