Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.E313_I314Splc
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CYP21A2

NM_000500.9:p.E313_I314Splc

Associated Papers

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

Bulsari K et al.

Endocrine, 2017

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.

Fukami M et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."