Varaico: Literature-Extracted Genetic Variants

Gene:SMS
Variant:p.Q102*
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SMS

NM_004595.5:p.Q102*

Associated Papers

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

Nguyen HH et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2016

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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."