Associated Papers
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.
Calvete O et al.
Journal of the American Heart Association, 2019
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
25333069 (PubMed )
Supplement: mgg30002-0438-SD2.pdf
The role of amino acid transporters in inherited and acquired diseases.
Bröer S et al.
The Biochemical Journal, 2011
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.
Bröer S et al.
The Journal of Clinical Investigation, 2008
Select a paper to view details