Author

Alison J. Eaton

University of AlbertaORCID 0000-0002-0512-0429Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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2021-2021 · peak 1/yr

8 top collaborators · 28 mutual co-author links

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1 shared paperDevelopmental Biology

Anna Segarra-FasORCID

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1 paper

Developmental BiologyScientific ReportsPeer-reviewedMay 5, 2021

This paper identifies a novel RLIM variant causing severe Tonne-Kalscheuer syndrome by disrupting protein stability and function.

13 citations