Interstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and exome sequencing study

• Published in: medRxiv : the preprint server for health sciences
• Main Authors: Motelow, Joshua E, Malakar, Ayan, Murthy, Sarath Babu Krishna, Verbitsky, Miguel, Kahn, Atlas, Estrella, Elicia, Kunkel, Louis, Wiesenhahn, Madelyn, Becket, Jaimee, Harris, Natasha, Lee, Richard, Adam, Rosalyn, Kiryluk, Krzysztof, Gharavi, Ali G, Brownstein, Catherine A
• Format: Journal Article
• Language: English
• Published: United States 18.02.2025

Interstitial cystitis/bladder pain syndrome (IC/BPS) is a poorly understood and underdiagnosed syndrome of chronic bladder/pelvic pain with urinary frequency and urgency. Though IC/BPS can be hereditary, little is known of its genetic etiology. Using the eMERGE data, we confirmed known phenotypic as...