Associated Papers
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.
Ahn JH et al.
Npj Genomic Medicine, 2024
39609445 (PubMed )
Supplement: 41525_2024_449_MOESM3_ESM.xlsx › Table_S2
Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology.
Wang Y et al.
Frontiers in Pediatrics, 2024
38737634 (PubMed )
Supplement: Datasheet1.pdf
Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.
Shameer K et al.
Briefings in Bioinformatics, 2016
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia.
Takata A et al.
Genome Biology, 2011
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