Associated Papers
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Flowers M et al.
Molecular Genetics and Metabolism, 2023
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Pena LD et al.
Molecular Genetics and Metabolism, 2016
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