Keywords: پروین; 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 پروین (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: پروین; 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: پروین; 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: پروین; 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: پروین; 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: پروین; 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;
Computational analysis of deleterious SNPs of SLC45A2 involved in oculocutaneous albinism type 4
Keywords: پروین; SNP; Single nucleotide polymorphism; SLC45A2; Solute carrier family 45, member 2; OCA4; Oculocutaneous albinism Type 4; nsSNP; Non-synonymous single nucleotide polymorphism; OA; Ocular albinism; TYR; Tyrosinase; TYRP1; Tyrosinase related protein 1; MATP;
Assessment of DNA repair susceptibility genes identified by whole exome sequencing in head and neck cancer
Keywords: پروین; 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: پروین; 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 analysis for the determination of deleterious nsSNPs in human MTHFD1 gene
Keywords: پروین; 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: پروین; 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