Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B7
Variant:p.R144Splc
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HSD3B7

NM_025193.4:p.R144Splc

Associated Papers

Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene.

Bossi G et al.

Pediatric Reports, 2017

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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."