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- Journal article
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
Beijer, Danique Kim, Hong Joo Guo, Lin O'Donovan, Kevin Mademan, Inès Deconinck, Tine Van Schil, Kristof Fare, Charlotte M Drake, Lauren E Ford, Alice F Kochański, Andrzej Kabzińska, Dagmara Dubuisson, Nicolas[UCL] Van den Bergh, Peter[UCL] Voermans, Nicol C Lemmers, Richard Jlf van der Maarel, Silvère M Bonner, Devon Sampson, Jacinda B Wheeler, Matthew T Mehrabyan, Anahit Palmer, Steven De Jonghe, Peter Shorter, James Taylor, J Paul Baets, Jonathan (2021) JCI insight — Vol. 6, no. 14, p. e148363 [1-19] (2021)