Varaico: Literature-Extracted Genetic Variants

Gene:REN
Variant:p.D83_T84Splc
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REN

NM_000537.4:p.D83_T84Splc

Associated Papers

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

de Carvalho DF et al.

European Journal of Endocrinology, 2016

The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.

Gomes LG et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."