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
The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.
Liu X et al.
Theranostics, 2022
36168622 (PubMed )
Supplement: thnov12p6160s2.xlsx › Table_S2
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang T et al.
Frontiers in Genetics, 2019
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