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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPOR

Variant:p.H177L

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EPOR

NM_000121.4:p.H177L

hg38:chr19:11381747 T>A

Associated Papers

Clinical manifestations of Pacak-Zhuang syndrome in a male pediatric patient.

Abdallah A et al.

Pediatric Blood & Cancer, 2020

31876082 (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."