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Article

A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing.

Journal of ovarian research - 6 Dec 2019

Zhao Minying, Feng Fan, Chu Chunfang, Yue Wentao, Li Lin

Abstract excerpt

BACKGROUND: To dissect the genetic causes underlying diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI) within a family. METHODS: Whole-exome sequencing of the proband was performed and DOR and Sanger sequencing was carried out to validate presence of the variant in the proband and her mother. In silico algorithms were used to analyze the mutational effect of the variant. PSIPRED...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31810472
DOI: 10.1186/s13048-019-0595-0
PMCID: PMC6896303

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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