Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.N17K
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C6

NM_000065.5:p.N17K

Associated Papers

Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.

Crefcoeur LL et al.

Journal of Inherited Metabolic Disease, 2022

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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."