Varaico: Literature-Extracted Genetic Variants

Gene:CYB5A
Variant:p.E43_H44Splc
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CYB5A

NM_148923.4:p.E43_H44Splc

Associated Papers

Two families, two pathways: a case series of 46, XY DSD with 17α-hydroxylase deficiency and isolated 17,20-lyase deficiency due to novel CYB5A variant.

Garg R et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025

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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."