Search Results - "Enns, Gregory Mark"
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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation: Molecular Genetics and Metabolism
Published in Molecular genetics and metabolism (26-07-2023)“…Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is a relatively common inborn error of metabolism, but due to difficulty in accurately…”
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Journal Article -
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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation
Published in Molecular genetics and metabolism (01-11-2023)“…Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is a relatively common inborn error of metabolism, but due to difficulty in accurately…”
Get full text
Journal Article