Associated Papers
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.
Couce ML et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
Mutational spectrum of maple syrup urine disease in Spain.
Rodríguez-Pombo P et al.
Human Mutation, 2006
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