Isidro Arevalo-Vargas , Irene Serrano Gonzalo , Sonia Roca-Esteve , Carlos Lahoz , Pilar Mozas , Pilar Giraldo
求助PDF
{"title":"在溶酶体疾病中分析不确定意义变异的“计算机”预测因子的验证","authors":"Isidro Arevalo-Vargas , Irene Serrano Gonzalo , Sonia Roca-Esteve , Carlos Lahoz , Pilar Mozas , Pilar Giraldo","doi":"10.1016/j.ymgme.2024.108640","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108640"},"PeriodicalIF":3.7000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Validation of “in silico” predictors for analyzing variants of uncertain significance in lysosomal disorders\",\"authors\":\"Isidro Arevalo-Vargas , Irene Serrano Gonzalo , Sonia Roca-Esteve , Carlos Lahoz , Pilar Mozas , Pilar Giraldo\",\"doi\":\"10.1016/j.ymgme.2024.108640\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":18937,\"journal\":{\"name\":\"Molecular genetics and metabolism\",\"volume\":\"144 2\",\"pages\":\"Article 108640\"},\"PeriodicalIF\":3.7000,\"publicationDate\":\"2025-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular genetics and metabolism\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1096719224005249\",\"RegionNum\":2,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular genetics and metabolism","FirstCategoryId":"99","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1096719224005249","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
引用
批量引用