Molecular Genetics and Metabolism Reports
ISSN: 2214-4269
Datasets associated with articles published in Molecular Genetics and Metabolism Reports
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- Data for: Pathogenicity of the m.1630A>G variant remains unproven if related mutation carriers with similar heteroplasmy rates are asymptomaticgenetic inestigations
- Supplementary Data for: Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1Supplementary Table of Z-Scores for patients found in our database with a pattern of abnormalities suggestive of an underlying deficiency in urocanase enzymatic activity. Supplementary Table of Raw-Z-Scores for all patients with a pattern of abnormalities suggestive of an underlying urocanase deficiency in both plasma and urine.