Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.E177Q
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CYP19A1

NM_000103.4:p.E177Q

Associated Papers

In silico analysis of nsSNPs in CYP19A1 gene affecting breast cancer associated aromatase enzyme.

Pavithran H et al.

Journal of Genetics, 2021

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.

Lee Y et al.

Annals of Pediatric Endocrinology & Metabolism, 2020

A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene.

Oh J et al.

Annals of Laboratory Medicine, 2017

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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."