心肌病患者队列中罕见的错义 TTN 变异的流行率。

{"title":"心肌病患者队列中罕见的错义 TTN 变异的流行率。","authors":"Irene Bottillo , Maria Pia Ciccone , Monia Magliozzi , Kalliopi Pilichou , Giorgia Girotto , Francesca Girolami , Massimiliano Cecconi , Valeria D'Argenio , Valeria Novelli , Alessandra Coiana , Daniela Formicola , Emanuele Micaglio , Giada Tortora , Francesca Gualandi , Simona Petrucci , Italian Cardiogenetics Study Group, Marco Castori , Nicoletta Resta , Anna Rita Vestri , Maria Iascone , Paola Grammatico","doi":"10.1016/j.yjmcc.2024.12.004","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":16402,"journal":{"name":"Journal of molecular and cellular cardiology","volume":"199 ","pages":"Pages 46-50"},"PeriodicalIF":4.9000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy\",\"authors\":\"Irene Bottillo , Maria Pia Ciccone , Monia Magliozzi , Kalliopi Pilichou , Giorgia Girotto , Francesca Girolami , Massimiliano Cecconi , Valeria D'Argenio , Valeria Novelli , Alessandra Coiana , Daniela Formicola , Emanuele Micaglio , Giada Tortora , Francesca Gualandi , Simona Petrucci , Italian Cardiogenetics Study Group, Marco Castori , Nicoletta Resta , Anna Rita Vestri , Maria Iascone , Paola Grammatico\",\"doi\":\"10.1016/j.yjmcc.2024.12.004\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":16402,\"journal\":{\"name\":\"Journal of molecular and cellular cardiology\",\"volume\":\"199 \",\"pages\":\"Pages 46-50\"},\"PeriodicalIF\":4.9000,\"publicationDate\":\"2025-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of molecular and cellular cardiology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0022282824002098\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of molecular and cellular cardiology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0022282824002098","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}