Associated Papers
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Alharbi H et al.
Journal of Inherited Metabolic Disease, 2023
Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.
Bisio A et al.
Human Molecular Genetics, 2010
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