Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.G219S
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CYP19A1

NM_000103.4:p.G219S

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

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

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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."