PMUT: a web-based tool for the annotation of pathological mutations on proteins. - Wikidata - wikimedia - TriplyDB

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

http://www.wikidata.org/entity/Q46477731

about

Genetic variation in an individual human exome Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome Cancer-associated loss-of-function mutations implicate DAPK3 as a tumor-suppressing kinase Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene Common variants in the trichohyalin gene are associated with straight hair in Europeans Malignant hyperthermia: a review Missense mutation in DISC1 C-terminal coiled-coil has GSK3β signaling and sex-dependent behavioral effects in mice Analysis of genetic variation and potential applications in genome-scale metabolic modeling Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes Expanding the phenotype and genotype of female GnRH deficiency Getting personalized cancer genome analysis into the clinic: the challenges in bioinformatics Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene A mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH)Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia Novel germline PALB2 truncating mutations in African American breast cancer patients Monoclonal antibodies specific for disease-associated point-mutants: lamin A/C R453W and R482W Next generation tools for the annotation of human SNPs Mutation-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 Approach Structural and functional analysis of human SOD1 in amyotrophic lateral sclerosis.The structural basis of hyper IgM deficiency - CD40L mutations.RILM: a web-based resource to aid comparative and functional analysis of the insulin and IGF-1 receptor family.Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6.Functional annotation of putative regulatory elements at cancer susceptibility Loci Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A Modeling functional changes to Escherichia coli thymidylate synthase upon single residue replacements: a structure-based approach Structure-PPi: a module for the annotation of cancer-related single-nucleotide variants at protein-protein interfaces Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.Computational approaches to study the effects of small genomic variations.Automated inference of molecular mechanisms of disease from amino acid substitutions.Correlating protein function and stability through the analysis of single amino acid substitutions.SNP2Structure: A Public and Versatile Resource for Mapping and Three-Dimensional Modeling of Missense SNPs on Human Protein Structures Human allelic variation: perspective from protein function, structure, and evolution.Predicting disease-associated substitution of a single amino acid by analyzing residue interactions.Meet me halfway: when genomics meets structural bioinformatics.

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P2860

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

http://www.wikidata.org/entity/Q46477731

description

2005 nî lūn-bûn

@nan

2005年の論文

@ja

2005年学术文章

@wuu

2005年学术文章

@zh

2005年学术文章

@zh-cn

2005年学术文章

@zh-hans

2005年学术文章

@zh-my

2005年学术文章

@zh-sg

2005年學術文章

@yue

2005年學術文章

@zh-hant

name

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

@en

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

@nl

type

label

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

@en

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

@nl

prefLabel

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

@en

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

@nl

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PMUT: a web-based tool for the annotation of pathological mutations on proteins

@en

P2093

Carles Ferrer-Costa

http://www.w3.org/2001/XMLSchema#string

Ivan Parraga

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Leire Zamakola

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Modesto Orozco

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P2860

The Protein Data Bank

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

The Pfam protein families database

Prediction of protein secondary structure at better than 70% accuracy

RASMOL: biomolecular graphics for all

Prediction of deleterious human alleles

SNPs, protein structure, and disease.

Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.

Accounting for human polymorphisms predicted to affect protein function.

Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation.

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3176-3178

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scholarly article

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10.1093/BIOINFORMATICS/BTI486

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14

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21

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Josep Lluís Gelpí

Xavier De la Cruz

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2005-05-06T00:00:00Z

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15879453

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