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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SQLE

Variant:p.D443_D444insFs

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SQLE

NM_003129.4:p.D443_D444insFs

hg38:chr8:125018183 T>TC

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."