Varaico: Literature-Extracted Genetic Variants

Gene:EPX
Variant:p.V117L
Back to variants list

EPX

NM_000502.6:p.V117L

Associated Papers

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.

Delamare M et al.

Haematologica, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."