Immunodeficiency mutation databases (IDbases)
Locus-specific databases for immunodeficiency-causing mutations.
Description
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Locus-specific databases for immunodeficiency-causing mutations.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:32:40.472521
Webpage:
http://structure.bmc.lu.se/idbase/Webpage
More detailed information about this field from each metasource.
http://structure.bmc.lu.se/idbase/
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:32:40.472521
Publications:
Publications
More detailed information about this field from each metasource.
Immunodeficiency mutation databases (IDbases)
PMID: 17004234
metasource: bio.tools
version: extracted_at: 2022-11-04T11:32:40.472521
Publications
More detailed information about this field from each metasource.
Immunodeficiency mutation databases (IDbases)
PMID: 17004234
metasource: bio.tools
version: extracted_at: 2022-11-04T11:32:40.472521
-
Immunodeficiency mutation databases (IDbases)
PubMed citations: 50.
50 articles citing: Immunodeficiency mutation databases (IDbases)
Systematics for types and effects of RNA variations. PMID:32951567
Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID. PMID:31858364
Systematics for types and effects of DNA variations. PMID:30591019
Representativeness of variation benchmark datasets. PMID:30497376
Simulation of the Dynamics of Primary Immunodeficiencies in B Cells. PMID:30116248
NDDVD: an integrated and manually curated Neurodegenerative Diseases Variation Database. PMID:29688368
Quantitative interaction analysis permits molecular insights into functional NOX4 NADPH oxidase heterodimer assembly. PMID:29674345
Cracking the DNA Code for V(D)J Recombination. PMID:29628308
Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review. PMID:29049190
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency. PMID:28747913
Crystal structures and atomic model of NADPH oxidase. PMID:28607049
Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells. PMID:28448599
Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome. PMID:28289593
PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned. PMID:28224672
GAVIN: Gene-Aware Variant INterpretation for medical sequencing. PMID:28093075
Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation. PMID:27270698
Human Variome Project Quality Assessment Criteria for Variation Databases. PMID:26919176
Human genotype-phenotype databases: aims, challenges and opportunities. PMID:26553330
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. PMID:26513235
Functional IRF3 deficiency in a patient with herpes simplex encephalitis. PMID:26216125
Biological databases for human research. PMID:25712261
Crystal structure of the V(D)J recombinase RAG1-RAG2. PMID:25707801
Types and effects of protein variations. PMID:25616435
Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome. PMID:25215306
CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update. PMID:24936511
Variation ontology: annotator guide. PMID:24533660
PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations. PMID:24453961
Proteomic changes during B cell maturation: 2D-DIGE approach. PMID:24205016
Variation Ontology for annotation of variation effects and mechanisms. PMID:24162187
Towards precision medicine: advances in computational approaches for the analysis of human variants. PMID:23962656
Extensive natural variation for cellular hydrogen peroxide release is genetically controlled. PMID:22952707
How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis. PMID:22759650
Monogenic autoimmunity. PMID:22224765
Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies. PMID:21477322
Crystallographic and mutational analysis of the CD40-CD154 complex and its implications for receptor activation. PMID:21285457
Residual NADPH oxidase and survival in chronic granulomatous disease. PMID:21190454
The role of AIRE in human autoimmune disease. PMID:21102544
Pitfalls of "hyper"-IgM syndrome: a new CD40 ligand mutation in the presence of low IgM levels. A case report and a critical review of the literature. PMID:20981468
Human variation databases. PMID:20639550
Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases. PMID:20360267
An integrated approach to the interpretation of single amino acid polymorphisms within the framework of CATH and Gene3D. PMID:19758469
Prediction of disease-related mutations affecting protein localization. PMID:19309509
Immunome knowledge base (IKB): an integrated service for immunome research. PMID:19134210
SysPIMP: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry. PMID:19036792
Genetics and immunopathology of chronic granulomatous disease. PMID:18509647
Recommendations for locus-specific databases and their curation. PMID:18157828
Spectrum of disease-causing mutations in protein secondary structures. PMID:17727703
IDR knowledge base for primary immunodeficiencies. PMID:17394641
Molecular characterization of the immune system: emergence of proteins, processes, and domains. PMID:17294181
Molecular approaches in the diagnosis of primary immunodeficiency diseases. PMID:16960849
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