Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.E394_S395Splc
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ACADVL

NM_000018.4:p.E394_S395Splc

Associated Papers

Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.

Li X et al.

European Journal of Medical Genetics, 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."