nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms
about
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndromeMolecular mechanisms of disease-causing missense mutationsAnalysis of genetic variation and potential applications in genome-scale metabolic modelingNext generation tools for the annotation of human SNPsMutation-Structure-Function Relationship Based Integrated Strategy Reveals the Potential Impact of Deleterious Missense Mutations in Autophagy Related Proteins on Hepatocellular Carcinoma (HCC): A Comprehensive Informatics ApproachSNP@Domain: a web resource of single nucleotide polymorphisms (SNPs) within protein domain structures and sequences.Status quo of annotation of human disease variants.Structural and functional analysis of human SOD1 in amyotrophic lateral sclerosis.Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.Computational approaches to study the effects of small genomic variations.Correlating protein function and stability through the analysis of single amino acid substitutions.Protein Destabilization as a Common Factor in Diverse Inherited Disorders.Human allelic variation: perspective from protein function, structure, and evolution.Molecular dynamics-based analyses of the structural instability and secondary structure of the fibrinogen gamma chain protein with the D356V mutation.Predicting disease-associated substitution of a single amino acid by analyzing residue interactions.Computational Modeling of complete HOXB13 protein for predicting the functional effect of SNPs and the associated role in hereditary prostate cancer.Meet me halfway: when genomics meets structural bioinformatics.Improving the prediction of disease-related variants using protein three-dimensional structurePrediction of protein-destabilizing polymorphisms by manual curation with protein structure.Knowledge discovery in variant databases using inductive logic programming.The SAAP pipeline and database: tools to analyze the impact and predict the pathogenicity of mutationsThe role of balanced training and testing data sets for binary classifiers in bioinformatics.An integrated epigenetic and genetic analysis of DNA methyltransferase genes (DNMTs) in tumor resistant and susceptible chicken lines.Distribution and effects of nonsense polymorphisms in human genes.In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools.Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases.Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.Predicting the functional consequences of cancer-associated amino acid substitutions.FunSAV: predicting the functional effect of single amino acid variants using a two-stage random forest modelVariation Interpretation Predictors: Principles, Types, Performance, and Choice.Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthaseSingle nucleotide variations: biological impact and theoretical interpretation.Structural modeling and in silico analysis of human superoxide dismutase 2In silico analysis of functional single nucleotide polymorphisms in the human TRIM22 geneThe road from next-generation sequencing to personalized medicine.Incorporating molecular and functional context into the analysis and prioritization of human variants associated with cancerClassification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants.KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily.Amyotrophic Lateral Sclerosis Type 20 - In Silico Analysis and Molecular Dynamics Simulation of hnRNPA1
P2860
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P2860
nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms
description
2005 nî lūn-bûn
@nan
2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
nsSNPAnalyzer: identifying dis ...... ingle nucleotide polymorphisms
@ast
nsSNPAnalyzer: identifying dis ...... ingle nucleotide polymorphisms
@en
nsSNPAnalyzer: identifying dis ...... ingle nucleotide polymorphisms
@nl
type
label
nsSNPAnalyzer: identifying dis ...... ingle nucleotide polymorphisms
@ast
nsSNPAnalyzer: identifying dis ...... ingle nucleotide polymorphisms
@en
nsSNPAnalyzer: identifying dis ...... ingle nucleotide polymorphisms
@nl
prefLabel
nsSNPAnalyzer: identifying dis ...... ingle nucleotide polymorphisms
@ast
nsSNPAnalyzer: identifying dis ...... ingle nucleotide polymorphisms
@en
nsSNPAnalyzer: identifying dis ...... ingle nucleotide polymorphisms
@nl
P2093
P2860
P3181
P356
P1476
nsSNPAnalyzer: identifying dis ...... ingle nucleotide polymorphisms
@en
P2093
P2860
P304
P3181
P356
10.1093/NAR/GKI372
P407
P433
Web Server issue
P577
2005-07-01T00:00:00Z