Varaico: Literature-Extracted Genetic Variants

Gene:STAG3
Variant:p.L490fs
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STAG3

NM_001282717.2:p.L490fs

Associated Papers

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

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

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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."