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COG Complex in Golgi Trafficking and Glycosylation.
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LDLR variant classification through activity-normalized prime editing screening.
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Biorxiv : the Preprint Server for Biology, 2025
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Supplement: media-1.xlsx › SuppTable1
Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density.
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Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
Gregersen N et al.
Human Molecular Genetics, 1998
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