STAG3 c.2776C > T, p.Arg926Ter is a recurrent variant in Russian patients with early-onset premature ovarian insufficiency.

doi:10.1007/s10815-026-03963-6

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Article

STAG3 c.2776C > T, p.Arg926Ter is a recurrent variant in Russian patients with early-onset premature ovarian insufficiency.

Journal of assisted reproduction and genetics - 1 Aug 2026

Pavlova Nadezhda, Tsabai Polina, Kumykova Zaira, Latypova Nailya, Averkova Victoria, Kochetkova Taisya, Mukosei Irina, Maslennikov Dmitry, Sadelov Igor, Novoyatlova Uliana, Goltsov Andrey, Ekimov Alexey, Shubina Jekaterina, Yureneva Svetlana, Uvarova Elena, Trofimov Dmitry, Sukhikh Gennady

Abstract excerpt

PURPOSE: To describe a cohort of Russian patients with early-onset premature ovarian insufficiency carrying the recurrent STAG3 c.2776C > T, p.Arg926Ter variant, and to study its frequency in the Russian population in comparison with gnomAD. METHODS: Case series description: six patients from five unrelated families of the Russian population. All probands manifested with early-onset POI and carried STAG3...

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Topics

Humans
Female
Primary Ovarian Insufficiency
Russia
Adult

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Gene Frequency

Amenorrhea

Age of Onset

Cell Cycle Proteins

Mutation

Genetic Predisposition to Disease

Homozygote

Nuclear Proteins

Source

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Identifiers

PMID: 42455414
DOI: 10.1007/s10815-026-03963-6
PMCID: PMC13598049

Genes

STAG3

Variants

Provenance

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