Hüpper, A; Gosk-Tomek, M; Schwerin-Nagel, A; Schmidt, I; Mahal, S; Lilja, S; Paquay, A; Rosensteiner, B; Bernert, G; Bittner, R; Schmidt, W.
Familial congenital myopathy due to digenic pathogenic variants in the SRPK3 and TTN genes
NEUROMUSCULAR DISORD. 2025; 53: 105570
Doi: 10.1016/j.nmd.2025.105570
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