Associated Papers
Metabolism of HSAN1- and T2DM-associated 1-deoxy-sphingolipids inhibits the migration of fibroblasts.
Karsai G et al.
Journal of Lipid Research, 2021
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
Bode H et al.
Human Molecular Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.
Preeprem T et al.
Biodata Mining, 2013
24365473 (PubMed )
Supplement: 1756-0381-6-24-S2.xlsx › Additional_Table_5
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