Automated inference of molecular mechanisms of disease from amino acid substitutions. - Wikidata - thesis-toulmin - TriplyDB

Automated inference of molecular mechanisms of disease from amino acid substitutions.

Automated inference of molecular mechanisms of disease from amino acid substitutions.

http://www.wikidata.org/entity/Q30380440

about

Crohn's disease risk alleles on the NOD2 locus have been maintained by natural selection on standing variation Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease Advances in translational bioinformatics: computational approaches for the hunting of disease genes Malignant hyperthermia: a review Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database Molecular mechanisms of disease-causing missense mutations Analysis of genetic variation and potential applications in genome-scale metabolic modeling Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer An integrated inspection of the somatic mutations in a lung squamous cell carcinoma using next-generation sequencing Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene PON-P2: prediction method for fast and reliable identification of harmful variants Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder Progress towards the integration of pharmacogenomics in practice A cis-regulatory mutation of PDSS2 causes silky-feather in chickens Evaluating purifying selection in the mitochondrial DNA of various mammalian species Bioinformatics for personal genome interpretation High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.Status quo of annotation of human disease variants.Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6.Bioinformatic Analysis of GJB2 Gene Missense Mutations.Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies Atomic Insight into the Altered O6-Methylguanine-DNA Methyltransferase Protein Architecture in Gastric Cancer Computational approaches to study the effects of small genomic variations.Protein Destabilization as a Common Factor in Diverse Inherited Disorders.Large scale analysis of protein stability in OMIM disease related human protein variants The Mutational Landscape of the Oncogenic MZF1 SCAN Domain in Cancer.Sixty-five years of the long march in protein secondary structure prediction: the final stretch?Predicting disease-associated substitution of a single amino acid by analyzing residue interactions.Simulation based investigation of deleterious nsSNP's in ATXN2 gene and its structural consequence towards Spinocerebellar Ataxia.Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma.Improving the prediction of disease-related variants using protein three-dimensional structure No evidence for the role of somatic mutations and promoter hypermethylation of FH gene in the tumorigenesis of nonsyndromic uterine leiomyomas.Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderly Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.

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P2860

Automated inference of molecular mechanisms of disease from amino acid substitutions.

http://www.wikidata.org/entity/Q30380440

description

2009 nî lūn-bûn

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2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

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2009年論文

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2009年论文

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name

Automated inference of molecular mechanisms of disease from amino acid substitutions.

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Automated inference of molecular mechanisms of disease from amino acid substitutions.

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type

label

Automated inference of molecular mechanisms of disease from amino acid substitutions.

@ast

Automated inference of molecular mechanisms of disease from amino acid substitutions.

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prefLabel

Automated inference of molecular mechanisms of disease from amino acid substitutions.

@ast

Automated inference of molecular mechanisms of disease from amino acid substitutions.

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Automated inference of molecular mechanisms of disease from amino acid substitutions.

@en

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Biao Li

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Fuxiao Xin

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Kishore K Kamati

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Matthew E Mort

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Sean D Mooney

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Vidhya G Krishnan

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P2860

Predicting deleterious amino acid substitutions

Identification, analysis, and prediction of protein ubiquitination sites

A census of human cancer genes

The Pfam protein families database

BRENDA, AMENDA and FRENDA the enzyme information system: new content and tools in 2009

Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase

CanPredict: a computational tool for predicting cancer-associated missense mutations

I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure.

Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association

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2744-2750

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10.1093/BIOINFORMATICS/BTP528

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21

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25

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Predrag Radivojac

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2009-09-03T00:00:00Z

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26793205

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19734154

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3140805

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