Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.W88delFs
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CYP19A1

NM_000103.4:p.W88delFs

Associated Papers

Bone Disease Associated with Inactivating Aromatase Mutations and its Management.

Cavati G et al.

Calcified Tissue International, 2025

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

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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."