P050:POLG2的双倍变体为癫痫和肝衰竭患者提供了罕见的分子诊断结果

{"title":"P050:POLG2的双倍变体为癫痫和肝衰竭患者提供了罕见的分子诊断结果","authors":"Vittoria Rossi , Dan Brooks , Hongzheng Dai , Elizabeth Mizerik , Yishay Ben-Moshe , Seema Lalani , Daryl Scott , Fernando Scaglia , Keren Machol , Mir Reza Bekheirnia","doi":"10.1016/j.gimo.2024.100927","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100927"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000736/pdfft?md5=3955c6f794151b747c46e58e241653a3&pid=1-s2.0-S2949774424000736-main.pdf","citationCount":"0","resultStr":"{\"title\":\"P050: Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure\",\"authors\":\"Vittoria Rossi , Dan Brooks , Hongzheng Dai , Elizabeth Mizerik , Yishay Ben-Moshe , Seema Lalani , Daryl Scott , Fernando Scaglia , Keren Machol , Mir Reza Bekheirnia\",\"doi\":\"10.1016/j.gimo.2024.100927\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":100576,\"journal\":{\"name\":\"Genetics in Medicine Open\",\"volume\":\"2 \",\"pages\":\"Article 100927\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2949774424000736/pdfft?md5=3955c6f794151b747c46e58e241653a3&pid=1-s2.0-S2949774424000736-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genetics in Medicine Open\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2949774424000736\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetics in Medicine Open","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2949774424000736","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}