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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD3B7

Variant:p.R35W

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HSD3B7

NM_025193.4:p.R35W

hg38:chr16:30985761 C>T

Associated Papers

Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

Liu R et al.

Scientific Reports, 2017

28835676 (PubMed )

Supplement: 41598_2017_7012_MOESM1_ESM.doc

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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."