Author

Johan Fransson

MaRSORCID 0000-0002-3029-7146Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Amit G. DeshwariD· 1 shared Boyko KakaradoviD· 1 shared Brendan J. Frey· 1 shared Carl SpickettiD· 1 shared Daniele MericoiD· 1 shared Erno Wienholds· 1 shared Frank W. Schmitges· 1 shared James J. DowlingiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Amit G. DeshwarORCID

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1 paper

Recent·Most cited

Geneticsnpj Genomic MedicinePeer-reviewedApr 8, 2020

ATP7B Variant c.1934T>G p.Met645Arg Causes Wilson Disease by Promoting Exon 6 Skipping

Daniele Merico, Carl Spickett, Matthew O’Hara…·Brendan J. Frey

This paper shows that the ATP7B variant c.1934T>G causes exon 6 skipping, leading to loss of function and confirming its pathogenicity in Wilson Disease.

23 citations

humanexperimental assay

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