Keywords: آنالیز اثر تغییرات پروتئین; Abbreviation; Annotation; nsSNVs; Non-Synonymous Single-Nucleotide Variants; MLTs; Machine Learning Techniques; SVM; Support Vector Machine; RF; Random Forest; ANN; Artificial Neural Network; SDM; Site-Directed Mutate; APOGEE; The pathogenicity Prediction
مقالات ISI آنالیز اثر تغییرات پروتئین (ترجمه نشده)
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Keywords: آنالیز اثر تغییرات پروتئین; complex disease; genetic diagnosis; phenotypic characterization; ACY1; Aminoacylase 1; JHF; Juvenile hyaline fibromatosis; PROVEAN; Protein Variation Effect Analyzer; SMALED2; Spinal muscular atrophy, lower extremity-predominant type 2; SNP; Single-nucleo
Keywords: آنالیز اثر تغییرات پروتئین; SNP; Single nuncleotide polymorphism; nsSNP; non-synonymous single nucleotide polymorphism; Cav; caveolin; IGFBP-5; insulin-like growth factor binding protein-5; CKD; chronic kidney diseases; iNOS; inducible nitric oxide synthase; HIF-1α; hypoxia inducib
A novel missense mutation of CRYGS underlies congenital cataract in a Chinese family
Keywords: آنالیز اثر تغییرات پروتئین; CADD; Combined annotation dependent depletion; CC; Congenital cataract; CRYGS; crystallin gamma S; DAPI; 4â²,6-diamidino-2-phenylindole; ECL; Enhanced chemiluminescence; FATHMM; Functional analysis through Hidden Markov models; LOD; Logarithm of the odds
Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia
Keywords: آنالیز اثر تغییرات پروتئین; CDA; congenital dyserythropoietic anaemias; PolyPhen; Polymorphism Phenotyping v2; SIFT; Sorting Intolerant From Tolerant; MAF; minor allele frequency; Provean; Protein Variation Effect Analyzer; ExAC; Exome Aggregation Consortium; SNP; single nucleotide
Computational analysis of non-synonymous single nucleotide polymorphism in the bovine cattle kappa-casein (CSN3) gene
Keywords: آنالیز اثر تغییرات پروتئین; SNP; single nucleotide polymorphism; SIFT; Sorting Intolerant From Tolerant; PolyPhen; phenotype polymorphism; nsSNP; nonsynonymous single nucleotide polymorphism; MUSTER; MUlti-Sources ThreadER; NCBI; National Centre for Biological Information; PROVEAN;
Assessment of DNA repair susceptibility genes identified by whole exome sequencing in head and neck cancer
Keywords: آنالیز اثر تغییرات پروتئین; AAS; Amino Acid Substitution; BAM; Binary Alignment Map; BER; Base Excision Repair; CI; Confidence Interval; CVC; Cross Validation Consistency; dbSNP; Single Nucleotide Polymorphism database; DDG; The predicted free energy change value; DSBR; Double Stran
Computational analysis of nsSNPs of NPHS1 gene and their effect on protein structural stability
Keywords: آنالیز اثر تغییرات پروتئین; NPHS1; nephrosis-1-congenital, finish type; SNP; single nucleotide polymorphisms; SIFT; sorting intolerant from tolerant; PROVEAN; protein variation effect ANalyzer; nsSNP; non-synonymous single nucleotide polymorphism; PYMOL; project molecular and cellul
Computational prediction of the effects of non-synonymous single nucleotide polymorphisms in the human Quinone Oxidoreductase 1 (NQO1)
Keywords: آنالیز اثر تغییرات پروتئین; SNP; Single nucleotide polymorphisms; nsSNPs; Non-synonymous SNPs; NQO1; NAD(P)H Quinone Oxidoreductase 1; SIFT; Sorting Intolerant from Tolerant; PolyPhen; phenotype polymorphism; ROVEAN; Protein Variation Effect Analyzer; PDB; Protein Data Bank; GDT; gl
Computational analysis for the determination of deleterious nsSNPs in human MTHFD1 gene
Keywords: آنالیز اثر تغییرات پروتئین; In silico analysis; Human MTHFD1 gene polymorphism; Single nucleotide polymorphisms; Folate metabolism; MTHFD15; 10-methylenetetrahydrofolate dehydrogenase 1; SIFT; sorting intolerant from tolerant; SNPs&GO; single nucleotide polymorphisms and gene ontolo
Putative role of KIR3DL1/3DS1 alleles and HLA-Bw4 ligands with end stage renal disease and long term renal allograft survival
Keywords: آنالیز اثر تغییرات پروتئین; KIRs; killer cell immunoglobulin-like receptors; NK; natural killer; HLA; human leukocyte antigen; LRC; leukocyte receptor complex; IPD-KIR; immuno polymorphism database for KIR; HCV; hepatitis C virus; HIV; human immunodeficiency virus; HSCT; hematopoiet