Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.R435H
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CYP19A1

NM_000103.4:p.R435H

Associated Papers

Aromatase enzyme deficiency in an adult male patient and the effects of estrogen replacement therapy: a rare cause of tall stature.

Imre E et al.

Hormones (athens, Greece), 2025

Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature.

Singhania P et al.

Bone Reports, 2022

Mutational Landscape Screening Through Comprehensive In Silico Analysis for Polycystic Ovarian Syndrome-Related Genes.

Dhar S et al.

Reproductive Sciences (thousand Oaks, Calif.), 2022

Aromatase deficiency in an Ontario Old Order Mennonite family.

Kim SY et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021

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

Pavithran H et al.

Journal of Genetics, 2021

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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."