Varaico: Literature-Extracted Genetic Variants

Gene:EPO
Variant:p.V126_S127ins0
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EPO

NM_000799.4:p.V126_S127ins0

Associated Papers

Discovering a novel genetic variant in 11 family members who had isolated pheochromocytoma linked to von Hippel-Lindau (VHL) syndrome, aligning with the type 2c phenotype.

Alhawari H et al.

Blood Pressure, 2024

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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."