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

Author List
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
Publication
Proceedings of the National Academy of Sciences of the United States of America
Publication ID (Profile URL)
https://researcherprofiles.org/profile/343574106
Publication Year
2022
PubMed ID
36343260
Publication Title
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. Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency. Proc Natl Acad Sci U S A. 2022 Nov 16; 119(46):e2210247119.