Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing
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Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer GenesBRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation.Functional characterization of BRCA1 gene variants by mini-gene splicing assay.Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exonsBRCA1 Alternative splicing landscape in breast tissue samples.Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.A Danish national effort of BRCA1/2 variant classification.RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing.Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA
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P2860
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing
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2014 nî lūn-bûn
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2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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name
Comparison of mRNA splicing as ...... standardized clinical testing
@ast
Comparison of mRNA splicing as ...... standardized clinical testing
@en
Comparison of mRNA splicing as ...... standardized clinical testing
@nl
type
label
Comparison of mRNA splicing as ...... standardized clinical testing
@ast
Comparison of mRNA splicing as ...... standardized clinical testing
@en
Comparison of mRNA splicing as ...... standardized clinical testing
@nl
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Comparison of mRNA splicing as ...... standardized clinical testing
@ast
Comparison of mRNA splicing as ...... standardized clinical testing
@en
Comparison of mRNA splicing as ...... standardized clinical testing
@nl
P2093
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Comparison of mRNA splicing as ...... standardized clinical testing
@en
P2093
Alexandra Becker
Ana Blanco
Anna Tenés
Carole Tirapo
Claude Houdayer
Conxi Lázaro
Demis Tserpelis
Francisco Quiles
P2860
P304
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P356
10.1373/CLINCHEM.2013.210658
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P577
2014-02-01T00:00:00Z