Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.E383G
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CYP17A1

NM_000102.4:p.E383G

Associated Papers

Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency.

Mo EY et al.

Endocrinology and Metabolism (seoul, Korea), 2018

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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."