Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.S488F
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CPT2

NM_000098.3:p.S488F

Associated Papers

Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.

Doshi BS et al.

American Journal of Blood Research, 2014

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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."