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
- Dataset
- 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.
- Dataset
- Dataset related to article "A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome"data set contains ngs RAW DATA (vcf, abi files) related to article mentioned at title
- Dataset