Associated Papers
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
De Winter J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
De Winter J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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