Varaico: Literature-Extracted Genetic Variants

Gene:STAG3
Variant:p.E446*
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STAG3

NM_001282717.2:p.E446*

Associated Papers

Selected Genetic Factors Associated with Primary Ovarian Insufficiency.

Chen M et al.

International Journal of Molecular Sciences, 2023

Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.

Demain LAM et al.

Reproductive Biomedicine Online, 2021

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

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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."