Author

Mari‐Anne Vals

Tartu University HospitalORCID 0000-0001-9231-6835Unclaimed 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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Research Focus:differential expression· 1 Organism:human· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Angel AshikoviD· 1 shared Dirk J. LefeberiD· 1 shared Eveline C. F. GerretseniD· 1 shared Fokje Zijlstra· 1 shared Geert van den BogaartiD· 1 shared Kai MuruiD· 1 shared Karin Huijben· 1 shared Katrin ÕunapiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Angel AshikovORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedOct 28, 2021

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

Peter T. A. Linders, Eveline C. F. Gerretsen, Angel Ashikov…·Geert van den Bogaart

This study identifies a congenital disorder of glycosylation caused by a missense variant in the second starting methionine of syntaxin-5, leading to loss of the short isoform and multisystem disease.

23 citations

humanproteomics

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