Varaico: Literature-Extracted Genetic Variants

Gene:ACADL
Variant:p.H332insFs
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ACADL

NM_001608.4:p.H332insFs

Associated Papers

Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.

Tajima G et al.

Pediatric Research, 2008

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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."