Associated Papers
Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.
Ochoa E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation.
Unoki M et al.
Human Molecular Genetics, 2023
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