Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.P317S
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EGLN1

NM_022051.3:p.P317S

Associated Papers

Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.

Lappin TR et al.

Blood Reviews, 2019

Loss of Phd2 cooperates with BRAFV600E to drive melanomagenesis.

Liu S et al.

Nature Communications, 2018

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