Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.K642fs
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CPT2

NM_000098.3:p.K642fs

Associated Papers

Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.

Shelihan I et al.

Jimd Reports, 2022

35028265 (PubMed )
Supplement: JMD2-63-3-s001.pdf
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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."