Varaico: Literature-Extracted Genetic Variants

Gene:STAG3
Variant:p.N525Splc
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STAG3

NM_001282717.2:p.N525Splc

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Selected Genetic Factors Associated with Primary Ovarian Insufficiency.

Chen M et al.

International Journal of Molecular Sciences, 2023

Genetic control of meiosis surveillance mechanisms in mammals.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

36910159 (PubMed )
Supplement: DataSheet2.PDF

Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia.

Xie C et al.

Human Reproduction Update, 2022

RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders.

He WB et al.

Journal of Medical Genetics, 2022

Novel STAG3 variant associated with primary ovarian insufficiency and non-obstructive azoospermia in an Iranian consanguineous family.

Akbari A et al.

Gene, 2022

Meiosis interrupted: the genetics of female infertility via meiotic failure.

Biswas L et al.

Reproduction (cambridge, England), 2021

Meiotic Cohesin and Variants Associated With Human Reproductive Aging and Disease.

Beverley R et al.

Frontiers in Cell and Developmental Biology, 2021

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency.

França MM et al.

European Journal of Medical Genetics, 2019

In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency.

Xiao WJ et al.

Frontiers in Genetics, 2019

Whole-exome sequencing identifies a homozygous donor splice-site mutation in STAG3 that causes primary ovarian insufficiency.

He WB et al.

Clinical Genetics, 2018

A STAG3 missense mutation in two sisters with primary ovarian insufficiency.

Colombo R et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2017

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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."