Author

Alice Kuster

Centre Hospitalier Universitaire de NantesORCID 0000-0002-1365-6354Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Adnan Yousaf Manzur· 1 shared Aileen Reghan FoleyiD· 1 shared Aki Sato· 1 shared Alice Flynn Ford· 1 shared Ana TöpfiD· 1 shared Andrea KleiniD· 1 shared Andriy V. ShatilloiD· 1 shared Aritoshi IidaiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adnan Yousaf Manzur

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1 paper

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedApr 28, 2022

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Hong Joo Kim, Payam Mohassel, Sandra C. Donkervoort…·J. Paul Taylor

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

44 citations

humanexperimental assay

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