Varaico: Literature-Extracted Genetic Variants

Gene:SPAG8
Variant:p.E5E
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SPAG8

NM_001039592.2:p.E5E

Associated Papers

Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD.

Rhéaume E et al.

Biochemistry, 1995

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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."