Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
36556183 (PubMed )
Supplement: jpm-12-01962-s001.zip › jpm-1983119-supplementary.pdf
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.
Liu Y et al.
Frontiers in Genetics, 2021
Convert your favorite protein modeling program into a mutation predictor: "MODICT".
Tanyalcin I et al.
Bmc Bioinformatics, 2016
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
Sturm M et al.
Plos One, 2012
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
Rhead WJ
Journal of Inherited Metabolic Disease, 0
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