Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.R498C
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CPT2

NM_000098.3:p.R498C

Associated Papers

Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.

Tajima G et al.

International Journal of Neonatal Screening, 2023

37987475 (PubMed )
Supplement: IJNS-09-00062-s001.zip › IJNS2023_TableS1.pdf
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