Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.L342P
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C6

NM_000065.5:p.L342P

Associated Papers

Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.

De Biase I et al.

Jimd Reports, 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."