Associated Papers
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
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Planas-Serra L et al.
The Journal of Clinical Investigation, 2023
36951944 (PubMed )
Supplement: jci-133-162957-s012.pdf
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC et al.
The Journal of Clinical Investigation, 2019
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