Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.G46E
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EPOR

NM_000121.4:p.G46E

Associated Papers

Targeted NGS analysis reveals a complex genetic background of idiopathic erythrocytosis in a large Venetian family.

Bertozzi I et al.

Genes & Diseases, 2024

Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.

Benetti A et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2024

The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.

Ayala R et al.

Cancers, 2021

34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2

Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.

Carbonell D et al.

Cancers, 2019

31540291 (PubMed )
Supplement: cancers-11-01364-s001.zip › cancers-588721-SI.pdf

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.

Camps C et al.

Haematologica, 2016

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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."