Associated Papers
A de novo <italic>PRPF8</italic> Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure.
Mäkitie O et al.
Hormone Research in Paediatrics, 2025
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
O'Grady L et al.
American Journal of Medical Genetics. Part A, 2022
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