Varaico: Literature-Extracted Genetic Variants

Gene:STAG3
Variant:p.L220R
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STAG3

NM_001282717.2:p.L220R

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

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

Genetic insights into the complexity of premature ovarian insufficiency.

Nie L et al.

Reproductive Biology and Endocrinology : Rb&e, 2024

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

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

Heddar A et al.

Ebiomedicine, 2022

36099812 (PubMed )
Supplement: mmc3.xlsx › Sheet1

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

Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.

Eskenazi S et al.

Journal of the Endocrine Society, 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

Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency.

Heddar A et al.

Molecular Genetics and Genomics : Mgg, 2019

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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."