Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.L353insFs
Back to variants list

CYP19A1

NM_000103.4:p.L353insFs

Associated Papers

Bone Disease Associated with Inactivating Aromatase Mutations and its Management.

Cavati G et al.

Calcified Tissue International, 2025

Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature.

Fan L et al.

Clinical Endocrinology, 2020

Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function.

Praveen VP et al.

Journal of the Endocrine Society, 2020

Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

Lhota F et al.

Clinical Genetics, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."