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Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation

Document Type

Article

Author

vanden Brande, L.; Bauché, S.; Malfatti, E.; Labasse, C.; Chevessier, F.; Carlier, P.; Eymard, B.; Romero, N.B.; Gidaro, T.; Seferian, A.M.; Pérez-Guàrdia, L.; Silva-Rojas, R.; Laporte, J.; Böhm, J.; Sternberg, D.; Servais, L.

Source

In: Neuropathology and Applied Neurobiology. (Neuropathology and Applied Neurobiology, February 2024, 50(1))

Subject

Language

English

ISSN

13652990
03051846

Online Access

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

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