Associated Papers
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
Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.
Hitomi T et al.
Journal of Genetics, 2015
Select a paper to view details