Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.Q447*
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CPT2

NM_000098.3:p.Q447*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Population-based, first-tier genomic newborn screening in the maternity ward.

Boemer F et al.

Nature Medicine, 2025

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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