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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EGLN1

Variant:p.F40F

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EGLN1

NM_022051.3:p.F40F

hg38:chr1:231421769 G>A

Associated Papers

Two Novel Genetic Variants Involved in the Oxygen Sensing Pathway in JAK2-unmutated Erythrocytosis.

Ma Q et al.

Biochemical Genetics, 2025

38568374 (PubMed )

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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."