Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.P165fs
Back to variants list

EGLN1

NM_022051.3:p.P165fs

Associated Papers

EGLN1-positive familial erythrocytosis: a rare variant with an unusually aggressive clinical course.

Maule L et al.

Journal of Hematopathology, 2025

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

Delamare M et al.

Haematologica, 2023

37317877 (PubMed )
Supplement: 2023_282913_DELAMARE_SUPPL.pdf

Erythrocytosis: genes and pathways involved in disease development.

Gašperšič J et al.

Blood Transfusion = Trasfusione Del Sangue, 2021

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."