Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.M478_D479Splc
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ACADVL

NM_000018.4:p.M478_D479Splc

Associated Papers

Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.

Rovelli V et al.

Molecular Genetics and Metabolism, 2019

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."