Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.

Koleske ML, McInnes G, Brown JEH, Thomas N, Hutchinson K, Chin MY, Koehl A, Arkin MR, Schlessinger A, Gallagher RC, Song YS, Altman RB, Giacomini KM