Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.V68G
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CYP11B1

NM_000497.4:p.V68G

Associated Papers

Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11β-Hydroxylase deficiency in a Chinese patient.

Li J et al.

Frontiers in Endocrinology, 2023

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