Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.V395L
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EPOR

NM_000121.4:p.V395L

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

Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis.

Echambadi Loganathan S et al.

European Journal of Medical Genetics, 2022

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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."