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SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism.
Int J Mol Sci. 2024 May 3;25(9):5008. doi: 10.3390/ijms25095008.
Int J Mol Sci. 2024.
PMID: 38732227
Free PMC article.
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 May 17. doi: 10.1007/s10048-024-00762-y. Online ahead of print.
Neurogenetics. 2024.
PMID: 38758368
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