Varaico: Literature-Extracted Genetic Variants

Gene:ACADSB
Variant:p.Q330*
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ACADSB

NM_001609.4:p.Q330*

Associated Papers

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.

Oglesbee D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

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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."