Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.V281L
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SDS

NM_006843.3:p.V281L

Associated Papers

Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia.

Brønstad I et al.

Endocrine Connections, 2014

Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.

Nikoshkov A et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

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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."