Genomic features defining exonic variants that modulate splicing.
about
Alternative splicing and genetic diversity: silencers are more frequently modified by SNVs associated with alternative exon/intron bordersCOL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humansCauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndromeBioinformatics for personal genome interpretationUsing bioinformatics to predict the functional impact of SNVsBoth Maintenance and Avoidance of RNA-Binding Protein Interactions Constrain Coding Sequence Evolution.regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution.A novel point mutation within the EDA gene causes an exon dropping in mature RNA in Holstein Friesian cattle breed affected by X-linked anhidrotic ectodermal dysplasia.SNPlice: variants that modulate Intron retention from RNA-sequencing data.Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites.SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.The evolution, impact and properties of exonic splice enhancers.Lineage-specific splicing of a brain-enriched alternative exon promotes glioblastoma progression.Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.Segtor: rapid annotation of genomic coordinates and single nucleotide variations using segment trees.Expanding the computational toolbox for mining cancer genomes.A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1Variation Interpretation Predictors: Principles, Types, Performance, and Choice.Context-dependent robustness to 5' splice site polymorphisms in human populations.Bidirectional promoters as important drivers for the emergence of species-specific transcripts.CIITA rs4774 and rs6498122 polymorphisms are associated with oral lichen planus in Chinese people: a case-control study.Bioinformatics challenges for personalized medicineMolecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasThe rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus.Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.Clinical implications of human population differences in genome-wide rates of functional genotypesGWASdb v2: an update database for human genetic variants identified by genome-wide association studies.Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.The functional relevance of somatic synonymous mutations in melanoma and other cancers.Determinants of the Usage of Splice-Associated cis-Motifs Predict the Distribution of Human Pathogenic SNPsTowards precision medicine: advances in computational approaches for the analysis of human variantsGenetic variations and alternative splicing: the Glioma associated oncogene 1, GLI1.Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?Global regulation of alternative splicing by adenosine deaminase acting on RNA (ADAR).Estimating the prevalence of functional exonic splice regulatory information.Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.
P2860
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P2860
Genomic features defining exonic variants that modulate splicing.
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Genomic features defining exonic variants that modulate splicing.
@ast
Genomic features defining exonic variants that modulate splicing.
@en
type
label
Genomic features defining exonic variants that modulate splicing.
@ast
Genomic features defining exonic variants that modulate splicing.
@en
prefLabel
Genomic features defining exonic variants that modulate splicing.
@ast
Genomic features defining exonic variants that modulate splicing.
@en
P2860
P356
P1433
P1476
Genomic features defining exonic variants that modulate splicing.
@en
P2093
Adam Woolfe
P2860
P2888
P356
10.1186/GB-2010-11-2-R20
P577
2010-02-16T00:00:00Z
P5875
P6179
1046064716