Making sense of missense variants in TTN-related congenital myopathies

2021 | journal article. A publication with affiliation to the University of Göttingen.

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​Making sense of missense variants in TTN-related congenital myopathies​
Rees, M.; Nikoopour, R.; Fukuzawa, A.; Kho, A. L.; Fernandez-Garcia, M. A.; Wraige, E. & Bodi, I. et al.​ (2021) 
Acta Neuropathologica141(3) pp. 431​-453​.​ DOI: https://doi.org/10.1007/s00401-020-02257-0 

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Authors
Rees, Martin; Nikoopour, Roksana; Fukuzawa, Atsushi; Kho, Ay Lin; Fernandez-Garcia, Miguel A.; Wraige, Elizabeth; Bodi, Istvan; Deshpande, Charu; Özdemir, Özkan; Daimagüler, Hülya-Sevcan; Pfuhl, Mark; Holt, Mark; Brandmeier, Birgit; Grover, Sarah; Fluss, Joël; Longman, Cheryl; Farrugia, Maria Elena; Matthews, Emma; Hanna, Michael; Muntoni, Francesco; Sarkozy, Anna; Phadke, Rahul; Quinlivan, Ros; Oates, Emily C.; Schröder, Rolf; Thiel, Christian; Reimann, Jens; Voermans, Nicol; Erasmus, Corrie; Kamsteeg, Erik-Jan; Konersman, Chaminda; Grosmann, Carla; McKee, Shane; Tirupathi, Sandya; Moore, Steven A.; Wilichowski, Ekkehard ; Hobbiebrunken, Elke; Dekomien, Gabriele; Richard, Isabelle; Van den Bergh, Peter; Domínguez-González, Cristina; Cirak, Sebahattin; Ferreiro, Ana; Jungbluth, Heinz; Gautel, Mathias
Issue Date
2021
Journal
Acta Neuropathologica 
ISSN
0001-6322
eISSN
1432-0533
Language
English

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