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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EGLN1

Variant:p.C21S

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EGLN1

NM_022051.3:p.C21S

hg38:chr1:231421828 A>T

Associated Papers

Cystathione β-synthase regulates HIF-1α stability through persulfidation of PHD2.

Dey A et al.

Science Advances, 2020

32937467 (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."