Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.P227L
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HADHA

NM_000182.5:p.P227L

Associated Papers

Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study.

Everard E et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

Sigauke E et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2003

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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."