Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

Authors Danique Beijer  , Hong Joo Kim , Lin Guo  , Kevin O'Donovan , Inès Mademan  , Tine Deconinck , Kristof Van Schil , Charlotte M Fare , Lauren E Drake , Alice F Ford , Andrzej Kochański , Dagmara Kabzińska , Nicolas Dubuisson , Peter Van den Bergh , Nicol C Voermans , Richard Jlf Lemmers , Silvère M van der Maarel , Devon Bonner , Jacinda B Sampson , Matthew T Wheeler , Anahit Mehrabyan , Steven Palmer , Peter De Jonghe   , James Shorter , J Paul Taylor  , Jonathan Baets   
Details Danique Beijer et al; JCI Insight; 2021;
DOI 10.1172/jci.insight.148363
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Jill Bouchard
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The mutations caused a range of effects on phase separation and stress granule dynamics.