Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.T232_D237ins2
Back to variants list

EGLN1

NM_022051.3:p.T232_D237ins2

Associated Papers

Erythrocytosis: genes and pathways involved in disease development.

Gašperšič J et al.

Blood Transfusion = Trasfusione Del Sangue, 2021

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

Lenglet M et al.

Blood, 2018

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."