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Pediatric toe-walking cohort with heterozygous SBF1 variants: A phenotypic description.
Selective mitophagy activation and protein aggregate accumulation in MTMR5/SBF1-deficient fibroblasts.
Characterization of a novel zebrafish model of MTMR5-associated Charcot-Marie-Tooth disease type 4B3.
A novel SBF1 missense mutation causes autosomal dominant Charcot-Marie-Tooth disease type 4B3.
Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene.