V. Kumar, Pramod Kumar, Lakshita Chauhan, Aradhana Dwivedi, H. Ramamurthy
{"title":"新型FLNC组合(c.5707G>A)p. Glu1903Lys)和BAG3 (c.610G>A;p.Gly204Arg)基因变异在青春期女孩中表达限制性心肌病表型","authors":"V. Kumar, Pramod Kumar, Lakshita Chauhan, Aradhana Dwivedi, H. Ramamurthy","doi":"10.1007/s12041-022-01402-w","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"27 1","pages":"1-6"},"PeriodicalIF":0.0000,"publicationDate":"2022-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Novel combination of FLNC (c.5707G>A; p. Glu1903Lys) and BAG3 (c.610G>A; p.Gly204Arg) genetic variant expressing restrictive cardiomyopathy phenotype in an adolescent girl\",\"authors\":\"V. Kumar, Pramod Kumar, Lakshita Chauhan, Aradhana Dwivedi, H. Ramamurthy\",\"doi\":\"10.1007/s12041-022-01402-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":49279,\"journal\":{\"name\":\"the Korean Journal of Genetics\",\"volume\":\"27 1\",\"pages\":\"1-6\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-11-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"the Korean Journal of Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s12041-022-01402-w\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"the Korean Journal of Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12041-022-01402-w","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Novel combination of FLNC (c.5707G>A; p. Glu1903Lys) and BAG3 (c.610G>A; p.Gly204Arg) genetic variant expressing restrictive cardiomyopathy phenotype in an adolescent girl