Varaico: Literature-Extracted Genetic Variants

Gene:STAG3
Variant:p.Y650fs
Back to variants list

STAG3

NM_001282717.2:p.Y650fs

Associated Papers

The landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review.

Allouch A et al.

Frontiers in Endocrinology, 2023

A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature.

Mellone S et al.

Genes, 2021

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

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.

Jaillard S et al.

Molecular Human Reproduction, 2020

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

STAG3 truncating variant as the cause of primary ovarian insufficiency.

Le Quesne Stabej P et al.

European Journal of Human Genetics : Ejhg, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."