BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

Raffaella De Pace(Eunice Kennedy Shriver National Institute of Child Health and Human Development), Adeline Vanderver(Children's Hospital of Philadelphia)
medRxiv
July 17, 2025
Cited by 0


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