Varaico: Literature-Extracted Genetic Variants

Gene:CPT1A
Variant:p.P714_V715Splc
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CPT1A

NM_001876.4:p.P714_V715Splc

Associated Papers

Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark.

Borch L et al.

Jimd Reports, 2012

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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."