Associated Papers
COASY variant as a new genetic cause of riboflavin-responsive lipid storage myopathy.
Zheng Y et al.
Cell Discovery, 2024
38413569 (PubMed )
Supplement: 41421_2023_641_MOESM1_ESM.pdf
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Evers C et al.
Molecular Genetics and Metabolism, 2017
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
Evers C et al.
American Journal of Medical Genetics. Part A, 2017
Carnitine transport and fatty acid oxidation.
Longo N et al.
Biochimica Et Biophysica Acta, 2016
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