{"title":"智力障碍患者的全外显子组测序发现 KCNB1、SHANK2 和 SYNGAP1 基因的新突变以及 PPP1R3F 基因的新突变","authors":"","doi":"10.54319/jjbs/160404","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":14804,"journal":{"name":"jordan journal of biological sciences","volume":" 23","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Whole Exome Sequencing in Intellectual Disability Patients Identifies de novo Mutations in KCNB1, SHANK2, and SYNGAP1 Genes and a Novel Mutation in PPP1R3F\",\"authors\":\"\",\"doi\":\"10.54319/jjbs/160404\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":14804,\"journal\":{\"name\":\"jordan journal of biological sciences\",\"volume\":\" 23\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"jordan journal of biological sciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.54319/jjbs/160404\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"Agricultural and Biological Sciences\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"jordan journal of biological sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.54319/jjbs/160404","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Agricultural and Biological Sciences","Score":null,"Total":0}
Whole Exome Sequencing in Intellectual Disability Patients Identifies de novo Mutations in KCNB1, SHANK2, and SYNGAP1 Genes and a Novel Mutation in PPP1R3F
期刊介绍:
Jordan Journal of Biological Sciences (JJBS) aims to provide a forum for a broad blend of scientific and technical papers to reflect the evolving needs of the biological sciences. Mainly welcome are contributions dealing with cell biology, genomics, microbiology, immunology, molecular biology, biochemistry, embryology, immunogenetics, cell and tissue culture, molecular ecology, genetic engineering and biological engineering, bioremediation and biodegradation, bioinformatics, biotechnology regulations, gene therapy, organismal biology, microbial and environmental biotechnology, marine sciences. The JJBS welcomes the submission of manuscript that meets the general criteria of significance and academic excellence. All articles published in JJBS are peer-reviewed