Associated Papers
Structural and Dynamic Assessment of Disease-Causing Mutations for the Carnitine Transporter OCTN2.
Jokiel J et al.
Molecular Informatics, 2025
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.
Ji X et al.
Frontiers in Genetics, 2023
38125748 (PubMed )
Supplement: Table1.XLSX › TableS1
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
Koleske ML et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
36343260 (PubMed )
Supplement: pnas.2210247119.sd01.xlsx › Dataset_S2
Genomic interval engineering of mice identifies a novel modulator of triglyceride production.
Zhu Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2000
Select a paper to view details