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_S1
Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China.
Chang S et al.
Frontiers in Genetics, 2022
MDR1 genotype-related pharmacokinetics and pharmacodynamics.
Sakaeda T et al.
Biological & Pharmaceutical Bulletin, 2002
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