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Article

Interstitial cystitis: a phenotype and rare variant exome sequencing study.

EBioMedicine - 1 Mar 2026

Motelow Joshua E, Malakar Ayan, Krishna Murthy Sarath Babu, Verbitsky Miguel, Kahn Atlas, Estrella Elicia, Shao Wanqing, Kunkel Louis, Wiesenhahn Madelyn, Beckett Jaimee, Harris Natasha, Lee Richard, Adam Rosalyn, Barbour Kamil E, Hakonarson Hakon, Luo Yuan, Weng Chunhua, Mendelsohn Cathy L, Kiryluk Krzysztof, Gharavi Ali G, Brownstein Catherine A

Abstract excerpt

BACKGROUND: Interstitial cystitis/bladder pain syndrome (IC/BPS) is a poorly understood and underdiagnosed syndrome of chronic bladder/pelvic pain with urinary frequency and urgency. Conflicting data exist regarding associated phenotypes, and little is known of its genetic aetiology. METHODS: We conducted a retrospective case-control analysis of electronic medical record (EMR) and retrospective case-control...

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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: 41713163
DOI: 10.1016/j.ebiom.2026.106150
PMCID: PMC12933612

Genes

ATP2A2
ATP2C1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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