Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.V248Splc
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CYP19A1

NM_000103.4:p.V248Splc

Associated Papers

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

Child with '46, XX' disorder of sex development: clues to diagnose aromatase deficiency.

Agrawal SS et al.

Bmj Case Reports, 2019

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 due to a Novel Mutation in CYP19A1 Gene

Unal E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2018

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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."