P011:功能定义患者的变异解释：蛋氨酸合成酶缺乏症（cblG）的教训

{"title":"P011:功能定义患者的变异解释：蛋氨酸合成酶缺乏症（cblG）的教训","authors":"David Rosenblatt , Caitlin Zacharias , Kyana Arbabian , David Watkins , Jean-Baptiste Riviere , Brian Gilfix , Krithika Ragupathi","doi":"10.1016/j.gimo.2024.100888","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100888"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000347/pdfft?md5=f1cd601bcf86c327351c7bbc414492a9&pid=1-s2.0-S2949774424000347-main.pdf","citationCount":"0","resultStr":"{\"title\":\"P011: Variant interpretation in functionally defined patients: Lessons from methionine synthase deficiency (cblG)\",\"authors\":\"David Rosenblatt , Caitlin Zacharias , Kyana Arbabian , David Watkins , Jean-Baptiste Riviere , Brian Gilfix , Krithika Ragupathi\",\"doi\":\"10.1016/j.gimo.2024.100888\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":100576,\"journal\":{\"name\":\"Genetics in Medicine Open\",\"volume\":\"2 \",\"pages\":\"Article 100888\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2949774424000347/pdfft?md5=f1cd601bcf86c327351c7bbc414492a9&pid=1-s2.0-S2949774424000347-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/S2949774424000347\",\"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/S2949774424000347","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}