Author

Aurélia Defour

InsermORCID 0000-0002-9114-0054Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Alexandra SalviiD· 1 shared Eugénie Dionnet· 1 shared Francesca PuppoiD· 1 shared Marc BartoliiD· 1 shared Martin KrahniD· 1 shared Nathalie Da Silva· 1 shared Nicolas LévyiD· 1 shared Svetlana GorokhovaiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetics

Alexandra SalviORCID

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1 paper

Recent·Most cited

GeneticsHuman MutationPeer-reviewedJul 15, 2020

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Eugénie Dionnet, Aurélia Defour, Nathalie Da Silva…·Svetlana Gorokhova

The paper systematically assesses the splicing impact of deep exonic missense variants in CAPN3 using minigene assays, revealing that eight variants disrupt splicing and highlight limitations in current computational tools.

20 citations

humanexperimental assay

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