换一批Genetic association of KCNJ10 rs1130183 with seizure susceptibility and computational analysis of deleterious non-synonymous SNPs of KCNJ10 gene.
第一作者：
Nagaraja M,Phani
第一单位：
Division of Biotechnology, School of Life Sciences, Manipal University, Manipal-576104, India.
作者：
关键词
CICNSCentral nervous systemComputational prediction toolsConfidence intervalEpilepsyFASTSNPFunctional analysis and selection tool for single nucleotide polymorphismsHMMHidden Markov ModelHpHydrophobicityIGEIdiopathic generalized epilepsyKCNJ10 rs1130183 (R271C) polymorphismLROLong range orderMSAMultiple sequence alignmentNCBINational Centre for Biotechnology InformationNon synonymous single nucleotide polymorphismsOROdds ratiosPANTHERPDBPSICPolyPhen-2Polymorphism phenotyping-2Position specific independent countsProtein analysis through evolutionary relationshipsProtein data bankQTLQuantitative trait lociRMSDRSARelative solvent accessibilityRoot mean square deviationSABLESCSIFTSNPsSRsSVMSeizureSingle nucleotide polymorphismsSolvent AccessibilitiesSorting intolerant from tolerantStabilizing centerStabilizing residuesSubstitution position specific evolutionary conservationSupport vector machineTITIFAC-CORETechnology Information Forecasting and Assessment Council - Centre of Relevance and ExcellenceTolerance indexUTRUntranslated regionnsSNPssubPSEC
医学主题词
病例对照研究(Case-Control Studies);基因频率(Gene Frequency);疾病遗传易感性(Genetic Predisposition to Disease);基因型(Genotype);人类(Humans);突变(Mutation);多态性, 单核苷酸(Polymorphism, Single Nucleotide);钾通道, 内向整流(Potassium Channels, Inwardly Rectifying);发作(Seizures)
DOI
10.1016/j.gene.2013.12.026
PMID
24378235
发布时间
2025-01-03
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Gene
247-53页
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