Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.Q434fs
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EPOR

NM_000121.4:p.Q434fs

Associated Papers

Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.

Bhai P et al.

Current Oncology (toronto, Ont.), 2022

36290845 (PubMed )
Supplement: curroncol-29-00568-s001.zip › Supplementary_File_II-layout.pdf

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

Lo Riso L et al.

Genes, 2022

Genetic Background of Congenital Erythrocytosis.

McMullin MF

Genes, 2021

Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.

Bellanné-Chantelot C et al.

Blood Reviews, 2020

New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis.

Pasquier F et al.

Haematologica, 2018

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

Bento C et al.

Human Mutation, 2014

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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."