Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.Y271_I275del5
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HADHA

NM_000182.5:p.Y271_I275del5

Associated Papers

Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.

Lefort B et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

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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."