Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.
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A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean FeverDisruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorderMultigene testing of moderate-risk genes: be mindful of the missenseComputational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methodsEvolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphismsPathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approachAnalysis of genetic variation and potential applications in genome-scale metabolic modelingMutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular diseaseIdentification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancerFunctional impact of missense variants in BRCA1 predicted by supervised learningNovel germline PALB2 truncating mutations in African American breast cancer patientsRare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening studyUsing bioinformatics to predict the functional impact of SNVsComparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger SyndromeRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberMutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients.Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2)Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.New sequence variants in BRCA1 and BRCA2 genes detected by high-resolution melting analysis in an elderly healthy female population in Croatia.Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.CoagVDb: a comprehensive database for coagulation factors and their associated SAPsComputational approaches to study the effects of small genomic variations.Multiple endocrine neoplasia type 2 kindred with novel tandem RET mutations: Case report with an applied in silico mutational tolerance analysis.Human allelic variation: perspective from protein function, structure, and evolution.Molecular dynamics-based analyses of the structural instability and secondary structure of the fibrinogen gamma chain protein with the D356V mutation.The Mutational Landscape of the Oncogenic MZF1 SCAN Domain in Cancer.Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach.Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employedManagement of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)Molecular study of the perforin gene in familial hematological malignancies.Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney diseaseAssessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modelingCharacterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.Detecting statistical interaction between somatic mutational events and germline variation from next-generation sequence data.Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.False discovery rates for rare variants from sequenced data.Why individual thermo sensation and pain perception varies? Clue of disruptive mutations in TRPVs from 2504 human genome data.Identification of 3 novel VHL germ-line mutations in Danish VHL patientsGenetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.
P2860
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P2860
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Comprehensive statistical stud ...... rent substitutions as neutral.
@en
type
label
Comprehensive statistical stud ...... rent substitutions as neutral.
@en
prefLabel
Comprehensive statistical stud ...... rent substitutions as neutral.
@en
P2093
P2860
P356
P1476
Comprehensive statistical stud ...... rent substitutions as neutral.
@en
P2093
A M Deffenbaugh
A Zharkikh
D de Silva
P B Samollow
S V Tavtigian
P2860
P304
P356
10.1136/JMG.2005.033878
P407
P577
2005-07-13T00:00:00Z