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Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation
10.1097/pgp.0000000000000243 [DOI] [PMC free article] [PubMed] [Google Scholar] 73
Deficiency of nicotinamide mononucleotide adenylyltransferase 3 (Nmnat3) causes hemolytic anemia by altering the glycolytic flow in mature erythrocytes
