Varaico: Literature-Extracted Genetic Variants

Gene:TAPBP
Variant:p.L362V
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TAPBP

NM_003190.5:p.L362V

Associated Papers

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.

Gallant NM et al.

Molecular Genetics and Metabolism, 2012

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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."