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Author Janecke A |
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Indelicato E, Author ; Nachbauer W ; Fauth C ; Krabichler B ; Schossig A ; Eigentler A ; Dichtl W ; Wenning G ; Wagner M ; Fanciulli A ; Janecke A ; Boesch S | England | 11/12/2018INTRODUCTION: SYNE1 encodes nesprin-1, a scaffold protein which is involved in the binding between cytoskeleton, nuclear envelope and other subcellular compartments. In 2007, recessive truncating SYNE1 mutations have been linked to a genetic for[...]