Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.V400M
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ACADVL

NM_000018.4:p.V400M

Associated Papers

Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Shiraishi H et al.

Brain & Development, 2021

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

Vallejo AN et al.

Clinical & Translational Immunology, 2021

Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.

Yamada K et al.

Molecular Genetics and Metabolism Reports, 2019

A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations.

Yamamoto F et al.

Journal of the Neurological Sciences, 2016

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › nci-h661_f40r3

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

Busquets C et al.

Pediatric Research, 2000

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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."