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Article

Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis.

Human genomics - 3 Oct 2023

Nousiainen Susanna, Kuismin Outi, Reinikka Siiri, Manninen Roosa, Khamaiseh Sara, Kuivalainen Mari, Terho Anna, Koivurova Sari, Niinimäki Maarit, Salokas Kari, Varjosalo Markku, Ahtikoski Anne, Bützow Ralf, Lindgren Outi, Uimari Outi, Vahteristo Pia

Abstract excerpt

BACKGROUND: Endometriosis is a common, chronic disease among fertile-aged women. Disease course may be highly invasive, requiring extensive surgery. The etiology of endometriosis remains elusive, though a high level of heritability is well established. Several low-penetrance predisposing loci have been identified, but high-risk susceptibility remains undetermined. Endometriosis is known to increase the risk of...

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Identifiers

PMID: 37789421
DOI: 10.1186/s40246-023-00538-9
PMCID: PMC10546785

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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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