Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.V248Splc
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CYP19A1

NM_000103.4:p.V248Splc

Associated Papers

46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.

Baronio F et al.

International Journal of Molecular Sciences, 2019

31533357 (PubMed )
Supplement: ijms-20-04605-s001.pdf

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Krone N et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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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."