Associated Papers
Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.
Maryami F et al.
Hereditas, 2023
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Pérez B et al.
Journal of Inherited Metabolic Disease, 2010
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
Jorge-Finnigan A et al.
Human Mutation, 2010
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
Lerner-Ellis JP et al.
Molecular Genetics and Metabolism, 2006
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