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_S2
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
OCTN1 variant L503F is associated with familial and sporadic inflammatory bowel disease.
Lin Z et al.
Journal of Crohn's & Colitis, 2010
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