Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.P35_R38insFs
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ACADVL

NM_000018.4:p.P35_R38insFs

Associated Papers

Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.

Kim SH et al.

Journal of Korean Medical Science, 2025

40390582 (PubMed )
Supplement: jkms-40-e68-s003.xls › jkms-40-e68-s003

Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report.

Kim YM et al.

Medicine, 2018

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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."