Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.E374G
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PRKN

NM_004562.3:p.E374G

Associated Papers

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia.

Ladroue C et al.

Haematologica, 2012

HIF pathway mutations and erythrocytosis.

McMullin MF

Expert Review of Hematology, 2010

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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."