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_S1
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
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