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.
Koleske ML, et al. Among authors: schlessinger a.
Proc Natl Acad Sci U S A. 2022 Nov 16;119(46):e2210247119. doi: 10.1073/pnas.2210247119. Epub 2022 Nov 7.
Proc Natl Acad Sci U S A. 2022.
PMID: 36343260
Free PMC article.