Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.V248Splc
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CYP19A1

NM_000103.4:p.V248Splc

Associated Papers

Bone Disease Associated with Inactivating Aromatase Mutations and its Management.

Cavati G et al.

Calcified Tissue International, 2025

Transposon clusters as substrates for aberrant splice-site activation.

Alvarez MEV et al.

Rna Biology, 2021

32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf

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

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

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."