about
RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.Spectrum of disease-causing mutations in protein secondary structuresDesign factors that influence PCR amplification success of cross-species primers among 1147 mammalian primer pairsGC content increased at CpG flanking positions of fish genes compared with sea squirt orthologs as a mechanism for reducing impact of DNA methylation.Prediction of disease-related mutations affecting protein localization.KinMutBase, a database of human disease-causing protein kinase mutations.Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.Ribosomal protein SA haploinsufficiency in humans with isolated congenital aspleniaNeighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes.Variation Interpretation Predictors: Principles, Types, Performance, and Choice.Novel CIC point mutations and an exon-spanning, homozygous deletion identified in oligodendroglial tumors by a comprehensive genomic approach including transcriptome sequencing.VariSNP, a benchmark database for variations from dbSNP.Harmful somatic amino acid substitutions affect key pathways in cancers.Mutational Spectrum Analysis of Neurodegenerative Diseases and Its Pathogenic ImplicationSubstitution scanning identifies a novel, catalytically active ibrutinib-resistant BTK cysteine 481 to threonine (C481T) variant.Formation and repair of DNA lesions in the p53 gene: relation to cancer mutations?DNA mutation motifs in the genes associated with inherited diseases.Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-aTNF-α inhibits aquaporin 5 expression in human salivary gland acinar cells via suppression of histone H4 acetylation.Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene.Genetic analysis in FXI deficient patients from northwestern Italy: three novel and one recurrent mutation.KinMutBase: a registry of disease-causing mutations in protein kinase domains.The apparent enhancement of CpG transversions in primate lineage is a consequence of multiple replacements.The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.CpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genes.Classification of mismatch repair gene missense variants with PON-MMR
P2860
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P2860
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh
1996年學術文章
@zh-hant
name
Sequence specificity in CpG mutation hotspots.
@en
Sequence specificity in CpG mutation hotspots.
@nl
type
label
Sequence specificity in CpG mutation hotspots.
@en
Sequence specificity in CpG mutation hotspots.
@nl
prefLabel
Sequence specificity in CpG mutation hotspots.
@en
Sequence specificity in CpG mutation hotspots.
@nl
P2860
P1433
P1476
Sequence specificity in CpG mutation hotspots.
@en
P2093
P2860
P304
P356
10.1016/0014-5793(96)01075-7
P407
P577
1996-11-01T00:00:00Z