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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POR

Variant:p.K555delFs

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POR

NM_001395413.1:p.K555delFs

hg38:chr7:75985925 AAG>A

Associated Papers

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.

Lee Y et al.

Annals of Pediatric Endocrinology & Metabolism, 2020

32615689 (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."