about
The diploid genome sequence of an individual humanSingle nucleotide polymorphism-based validation of exonic splicing enhancersGenetic variation in an individual human exomePredicting the effects of frameshifting indelsProCMD: a database and 3D web resource for protein C mutantsAminoglycosides and other nonsense suppression therapies for the treatment of dystrophinopathySulfatases and sulfatase modifying factors: an exclusive and promiscuous relationshipComparative analysis of cancer genes in the human and chimpanzee genomes.Ensembl 2014Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genesDe novo mutations in ATP1A3 cause alternating hemiplegia of childhoodExome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisFINDbase: a worldwide database for genetic variation allele frequencies updatedLarge-scale mapping of branchpoints in human pre-mRNA transcripts in vivoThe COSMIC (Catalogue of Somatic Mutations in Cancer) database and websiteRecommendations for locus-specific databases and their curationSequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encodingSplicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcriptsCOSMIC 2005UCbase & miRfunc: a database of ultraconserved sequences and microRNA functionUpstream open reading frames cause widespread reduction of protein expression and are polymorphic among humansThe iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanismsA microarray configuration to quantify expression levels and relative abundance of splice variants.Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomesTandem repeat copy-number variation in protein-coding regions of human genes.Speeding disease gene discovery by sequence based candidate prioritizationnsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphismsRB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methodsDjinn Lite: a tool for customised gene transcript modelling, annotation-data enrichment and explorationHuman Knockout Carriers: Dead, Diseased, Healthy, or Improved?Disease gene identification strategies for exome sequencingA review of post-GWAS prioritization approachesStructure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's diseaseScanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLCc.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucomaEnsembl 2013ORegAnno: an open access database and curation system for literature-derived promoters, transcription factor binding sites and regulatory variationMutational analysis of aspartoacylase: implications for Canavan diseaseGermline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency
P2860
Q21090194-48DCDAE2-DB78-4303-A46B-21D06F763FCDQ21092824-214AEA36-D21D-46A0-A7F6-1EE930E4E28CQ21145035-7BA1198D-9ABB-4D19-865A-415AEC4C0453Q21184005-14FF69EA-1873-403E-B564-13E637C21113Q21284212-360962D8-86D4-4053-B7FC-A2C19A03FC7BQ24240721-730771E9-ACBC-4E65-B12F-01D6C24FD201Q24328801-DD79E4B8-F8A8-4046-9A93-0C6AABB7CF82Q24541311-4F11B12D-1E51-4DFD-98C0-D7D1DFE6562EQ24567767-0723A92E-3EAE-4550-ADE9-B017320B1A43Q24596441-0B6F2A70-461A-4F86-A19A-B1537D986844Q24600468-5D1F4FB0-F478-4B35-BB6C-F13E40F4DB8EQ24607347-8B0BA402-0536-4FC4-92FB-7F3F48825D7CQ24610176-34278198-5F63-41BB-BE9D-273B4F29CA76Q24630818-E8B2AD1E-A4DC-43E1-90D4-E55E67286149Q24645514-EF235EFC-1724-45CE-A538-46A59ED1F60EQ24646762-AB233871-73F3-4CFD-8E37-3AC9E03CEFC3Q24647100-1435ADEF-9D85-4383-B286-97B4FA861448Q24651972-76601CFA-5DCB-4D7C-B92A-C17A25652B2AQ24652464-76D90129-8910-4A1D-83F2-776C6647BF8BQ24656355-328C36B5-51CD-4F8B-BBF9-0F14FA8D1F06Q24658225-14056C2A-0230-4A08-BA27-AD866DCF44AEQ24673451-CA13B9E5-02CB-4148-9F9F-EA3ED02E3AA2Q24797945-18FF8338-B684-45AB-857F-3646D6067878Q24805194-9EFF9DAA-0C6E-4071-BF85-4A1979914FCCQ24811291-1767C2D9-060E-4C75-8F64-87C85DBE8B0FQ24811442-FBA103B0-708E-4501-A064-A9461A6A0EEAQ24812204-586C1162-0C58-4F94-B4C3-028E17A58BE7Q24813953-2E3DEF04-39CB-4A92-9845-6A5929CD95C9Q25255759-9FD320A5-D2D6-46B5-A701-96442727A455Q25257507-E98B620B-DFB6-4A7F-AF99-328F519BF7E6Q26764736-063AC321-98D1-451F-8141-9840E88E7563Q26866283-D32F620C-D401-4919-8DD4-97740F285FC5Q26995408-3B251C70-7D7A-453A-88BD-6362CF19C760Q27644069-4D8B6D69-C58F-4A7D-B54F-1B3EB5DD3668Q28244344-4227AC91-3979-4596-B159-14604A7C7997Q28245794-7C6DD3DC-2329-4C5D-875C-C4CA5EAA91DEQ28280494-2C2F06B1-2C41-467E-8D13-F9C24BBA2E2BQ28290181-9A7C836A-9C04-4C54-9286-1F087FB6158BQ28295349-694E46EF-9DA1-4939-8F62-F10806B90A2CQ28300499-13D80A2B-2FD0-4327-B7C9-04D551841532
P2860
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Human Gene Mutation Database (HGMD): 2003 update.
@en
Human Gene Mutation Database
@nl
type
label
Human Gene Mutation Database (HGMD): 2003 update.
@en
Human Gene Mutation Database
@nl
prefLabel
Human Gene Mutation Database (HGMD): 2003 update.
@en
Human Gene Mutation Database
@nl
P2093
P2860
P356
P1433
P1476
Human Gene Mutation Database (HGMD): 2003 update.
@en
P2093
Andrew D Phillips
Edward V Ball
Jacqueline A Shiel
Matthew Mort
Nick S T Thomas
Peter D Stenson
Shaun Abeysinghe
P2860
P304
P356
10.1002/HUMU.10212
P577
2003-06-01T00:00:00Z