Associated Papers
Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.
Wang J et al.
Frontiers in Pediatrics, 2020
33344382 (PubMed )
Supplement: Table_2.XLSX › Result
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Smetanina NS et al.
Pediatric Blood & Cancer, 2015
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