Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.K99Splc
Back to variants list

CYP19A1

NM_000103.4:p.K99Splc

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

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

Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization.

Zhu WJ et al.

Molecular and Cellular Endocrinology, 2016

Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence.

Belgorosky A et al.

Hormone Research, 2009

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."