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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACADVL

Variant:p.F288insFs

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ACADVL

NM_000018.4:p.F288insFs

hg38:chr17:7222287 T>TC

Associated Papers

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

Hesse J et al.

Journal of Inherited Metabolic Disease, 2018

30194637 (PubMed )

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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."