Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.F388Y
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CPT2

NM_000098.3:p.F388Y

Associated Papers

Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation.

Phowthongkum P et al.

Jimd Reports, 2018

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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."