Varaico: Literature-Extracted Genetic Variants

Gene:CHPT1
Variant:p.L334P
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CHPT1

NM_020244.3:p.L334P

Associated Papers

Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.

Ambrose A et al.

Orphanet Journal of Rare Diseases, 2022

36109795 (PubMed )
Supplement: 13023_2022_2512_MOESM1_ESM.docx

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.

Long T et al.

Nature Genetics, 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."