Associated Papers
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
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Genome Medicine, 2023
Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.
Maryami F et al.
Hereditas, 2023
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
Lerner-Ellis JP et al.
Molecular Genetics and Metabolism, 2006
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