BICD2 中的一种新型新拼接受体变异与脊髓肌肉萎缩有关。

{"title":"BICD2 中的一种新型新拼接受体变异与脊髓肌肉萎缩有关。","authors":"Giulia F Del Gobbo, Xueqi Wang, Stella K MacDonald, Yijing Liang, Hugh J McMillan, Gabrielle Lemire, Kym M Boycott","doi":"10.1002/ajmg.a.63944","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e63944"},"PeriodicalIF":1.7000,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy.\",\"authors\":\"Giulia F Del Gobbo, Xueqi Wang, Stella K MacDonald, Yijing Liang, Hugh J McMillan, Gabrielle Lemire, Kym M Boycott\",\"doi\":\"10.1002/ajmg.a.63944\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":7507,\"journal\":{\"name\":\"American Journal of Medical Genetics Part A\",\"volume\":\" \",\"pages\":\"e63944\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2024-11-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American Journal of Medical Genetics Part A\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1002/ajmg.a.63944\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics Part A","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1002/ajmg.a.63944","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}