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Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
Radziwonik-Fraczyk W, Elert-Dobkowska E, Karpinski M, Pilch J, Ziora-Jakutowicz K, Kubalska J, Szczesniak D, Stepniak I, Zaremba J, Sulek A. Radziwonik-Fraczyk W, et al. Neurogenetics. 2024 Jul;25(3):233-247. doi: 10.1007/s10048-024-00762-y. Epub 2024 May 17. Neurogenetics. 2024. PMID: 38758368 Free PMC article.