Varaico: Literature-Extracted Genetic Variants

Gene:STAG3
Variant:p.A646fs
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STAG3

NM_001282717.2:p.A646fs

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

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

Jaillard S et al.

Molecular Human Reproduction, 2020

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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."