BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
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De Pace R, et al. Among authors: williamson cd.
medRxiv [Preprint]. 2025 Jul 17:2025.07.17.25331211. doi: 10.1101/2025.07.17.25331211.
medRxiv. 2025.
PMID: 40791729
Free PMC article.
Preprint.