Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.

Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.

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http://www.wikidata.org/entity/Q47684329
Both Maintenance and Avoidance of RNA-Binding Protein Interactions Constrain Coding Sequence Evolution.SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?The roles of RNA processing in translating genotype to phenotypeEstimating the prevalence of functional exonic splice regulatory information.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.Saturation mutagenesis reveals manifold determinants of exon definition.Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.Identification of genetic variants for clinical management of familial colorectal tumors.
P2860

Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.

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http://www.wikidata.org/entity/Q47684329
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Functional analysis of a large ...... splicing regulatory elements.
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Functional analysis of a large ...... splicing regulatory elements.
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type
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Functional analysis of a large ...... splicing regulatory elements.
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Functional analysis of a large ...... splicing regulatory elements.
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Functional analysis of a large ...... splicing regulatory elements.
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Functional analysis of a large ...... splicing regulatory elements.
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Functional analysis of a large ...... splicing regulatory elements.
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P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698