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Paper Details

Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation.
Hum Mol Genet
6
2023
Author NameAffiliation
Akihiro FujimotoGraduate School of Medicine, The University of Tokyo
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Release 1.2