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Article

Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging.

Nature communications - 18 Aug 2021

Singh Priti, Fragoza Robert, Blengini Cecilia S, Tran Tina N, Pannafino Gianno, Al-Sweel Najla, Schimenti Kerry J, Schindler Karen, Alani Eric A, Yu Haiyuan, Schimenti John C

Abstract excerpt

Embryonic aneuploidy from mis-segregation of chromosomes during meiosis causes pregnancy loss. Proper disjunction of homologous chromosomes requires the mismatch repair (MMR) genes MLH1 and MLH3, essential in mice for fertility. Variants in these genes can increase colorectal cancer risk, yet the reproductive impacts are unclear. To determine if MLH1/3 single nucleotide polymorphisms (SNPs) in human populations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34408140
DOI: 10.1038/s41467-021-25028-1
PMCID: PMC8373927

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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