Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.R550Q
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EPAS1

NM_001430.5:p.R550Q

Associated Papers

Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.

Benetti A et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2024

Primate-specific ZNF808 is essential for pancreatic development in humans.

De Franco E et al.

Nature Genetics, 2023

37973953 (PubMed )
Supplement: 41588_2023_1565_MOESM4_ESM.xlsx › Supplementary_Table_2

Genetic basis of unexplained erythrocytosis in Indian patients.

Mallik N et al.

European Journal of Haematology, 2019

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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."