Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.G439delFs
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ACADVL

NM_000018.4:p.G439delFs

Associated Papers

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).

Hesse J et al.

Journal of Inherited Metabolic Disease, 2018

[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].

Jinjun C et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015

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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."