Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.G407Splc
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HADHA

NM_000182.5:p.G407Splc

Associated Papers

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.

Sykut-Cegielska J et al.

Journal of Inherited Metabolic Disease, 2011

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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."