Associated Papers
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.
Beale HC et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40297416 (PubMed )
Supplement: media-1.xlsx › S3_Clinical_findings
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
Hülsmeier AJ et al.
Journal of Lipid Research, 2023
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