UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.
about
Hypoxia and cell cycle regulation of the von Hippel-Lindau tumor suppressorRecommendations for locus-specific databases and their curationThe molecular genetics of Marfan syndrome and related disordersMulti-exon deletions of the FBN1 gene in Marfan syndromePrevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort studyBiological databases for human researchClinical utility of anti-p53 auto-antibody: systematic review and focus on colorectal cancerRare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosisHuman variation databasesUse of mutation spectra analysis software.Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System.Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotypeLOVD v.2.0: the next generation in gene variant databases.Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis.Variation Interpretation Predictors: Principles, Types, Performance, and Choice.Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinomaHuman Splicing Finder: an online bioinformatics tool to predict splicing signals.Marfan syndrome in the third Millennium.Variobox: automatic detection and annotation of human genetic variants.The UMD-p53 database: new mutations and analysis tools.Ligation of high-melting-temperature 'clamp' sequence extends the scanning range of rare point-mutational analysis by constant denaturant capillary electrophoresis (CDCE) to most of the human genome.Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.Identification of Medically Actionable Secondary Findings in the 1000 Genomes.Harmonizing the interpretation of genetic variants across the world: the Malaysian experience.Human Variome Project Quality Assessment Criteria for Variation Databases.Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databasesDetermining the identifiability of DNA database entries.Proteostasis modulators prolong missense VHL protein activity and halt tumor progressionMutationView/KMcancerDB: a database for cancer gene mutations.UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.A mechanistic evaluation of the Syrian hamster embryo cell transformation assay (pH 6.7) and molecular events leading to senescence bypass in SHE cellsHuman mutation databases.Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
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UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
2000年學術文章
@zh
2000年學術文章
@zh-hant
name
UMD (Universal mutation databa ...... lyze locus-specific databases.
@en
type
label
UMD (Universal mutation databa ...... lyze locus-specific databases.
@en
prefLabel
UMD (Universal mutation databa ...... lyze locus-specific databases.
@en
P2093
P2860
P1433
P1476
UMD (Universal mutation databa ...... lyze locus-specific databases.
@en
P2093
P2860
P356
10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4
P577
2000-01-01T00:00:00Z