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
Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
Afridi TUK et al.
Molecular Genetics and Genomics : Mgg, 2024
Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism.
Dei Cas M et al.
Journal of Lipid Research, 2024
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC et al.
The Journal of Clinical Investigation, 2019
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