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Paper Details

Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
Proc Natl Acad Sci U S A
8
2022
(HEK293T) cells, <sup>14</sup>C-carnitine, CTD, Carnitine, Carnitine Transporter, Carnitine Transporter Deficiency, GFP, LOF variants, OCTN2, OCTN2 variants, SLC22A5, VUSs, carnitine, green fluorescent protein, human, human embryonic kidney, metabolic disorder, missense variants
Author NameAffiliation
Megan L KoleskeUniversity of California san francisco
Avner SchlessingerDepartment of Pharmacological Sciences, Icahn School of Medicine at Mt. Sinai
Avner SchlessingerDepartment of Pharmacological Sciences, Icahn School of Medicine at Mt. Sinai
Russ B AltmanStanford University
Russ B AltmanStanford University
Kathleen M GiacominiUniversity of California san francisco
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