Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.Y426*
Back to variants list

EPOR

NM_000121.4:p.Y426*

Associated Papers

Developmental changes in iron metabolism and erythropoiesis in mice with human gain-of-function erythropoietin receptor.

Kralova B et al.

American Journal of Hematology, 2022

Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review.

Lo Riso L et al.

Genes, 2022

Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation.

Ratarat C et al.

International Journal of Hematology, 2019

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.

Oskarsson GR et al.

Communications Biology, 2018

Delayed hemoglobin switching and perinatal neocytolysis in mice with gain-of-function erythropoietin receptor.

Divoky V et al.

Journal of Molecular Medicine (berlin, Germany), 2016

Genetic basis of congenital erythrocytosis: mutation update and online databases.

Bento C et al.

Human Mutation, 2014

Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.

Rives S et al.

Haematologica, 2007

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."