Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B7
Variant:p.R110Q
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HSD3B7

NM_025193.4:p.R110Q

Associated Papers

A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China.

Wu L et al.

Orphanet Journal of Rare Diseases, 2020

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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."