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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:H6PD

Variant:p.R455delFs

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H6PD

NM_004285.4:p.R455delFs

hg38:chr1:9263855 GC>G

Associated Papers

Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.

Sahakitrungruang T et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

19837910 (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."