Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.M443R
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ACADVL

NM_000018.4:p.M443R

Associated Papers

Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).

Vallejo AN et al.

Clinical & Translational Immunology, 2021

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Tan J et al.

Ebiomedicine, 2020

32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants

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

Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

Schiff M et al.

Molecular Genetics and Metabolism, 2013

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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."