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
38342436 (PubMed )
Supplement: mmc1.docx
Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors.
Uno K et al.
Genes, Chromosomes & Cancer, 2002
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