Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

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Functional Interaction Between and DNA Repair in Yeast May Uncover a Role of , and Somatic Variants in Cancer Development

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Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

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2016 nî lūn-bûn

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2016年論文

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2016年論文

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2016年論文

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Functional Assessment of Genet ...... ed to Clinical Decision-Making

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Functional Assessment of Genet ...... ed to Clinical Decision-Making

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Functional Assessment of Genet ...... ed to Clinical Decision-Making

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Functional Assessment of Genet ...... ed to Clinical Decision-Making

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Functional Assessment of Genet ...... ed to Clinical Decision-Making

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Functional Assessment of Genet ...... ed to Clinical Decision-Making

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Functional Assessment of Genet ...... ed to Clinical Decision-Making

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Alain Nicolas

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Aurianne Lescure

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Barbara Ben Yamin

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David E Goldgar

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Dominique Stoppa-Lyonnet

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Elaine Del Nery

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Gaël A Millot

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Lou Fourrière

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Pierre Thouvenot

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A guide for functional analysis of BRCA1 variants of uncertain significance

A guided tour into subcellular colocalization analysis in light microscopy

Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.

Deconvolution microscopy.

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1

Molecular genetic testing and the future of clinical genomics.

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

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e1006096

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scholarly article

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10.1371/JOURNAL.PGEN.1006096

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Thomas Boudier

Anne Chauchereau

Claude Houdayer

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2016-06-06T00:00:00Z

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27272900

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4894565

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Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

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Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

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