Associated Papers
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
Mohan S et al.
Molecular Genetics and Metabolism, 2023
Putative modifier genes in mevalonate kinase deficiency.
Marcuzzi A et al.
Molecular Medicine Reports, 2016
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