A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype
| Autor: | De Ridder, Willem, de Vries, Geert, Van Schil, Kristof, Deconinck, Tine, Mouly, Vincent, Straub, Volker, Baets, Jonathan |
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| Zdroj: | In Neuromuscular Disorders May 2023 33(5):432-439 |
| Databáze: | ScienceDirect |
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