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Article

Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.

The Journal of clinical endocrinology and metabolism - 17 Feb 2022

Gorsi Bushra, Hernandez Edgar, Moore Marvin Barry, Moriwaki Mika, Chow Clement Y, Coelho Emily, Taylor Elaine, Lu Claire, Walker Amanda, Touraine Philippe, Nelson Lawrence M, Cooper Amber R, Mardis Elaine R, Rajkovic Aleksander, Yandell Mark, Welt Corrine K

Abstract excerpt

CONTEXT: A genetic etiology likely accounts for the majority of unexplained primary ovarian insufficiency (POI). OBJECTIVE: We hypothesized that heterozygous rare variants and variants in enhanced categories are associated with POI. DESIGN: The study was an observational study. SETTING: Subjects were recruited at academic institutions. PATIENTS: Subjects from Boston (n = 98), the National Institutes of Health and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34718612
DOI: 10.1210/clinem/dgab775
PMCID: PMC9006976

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