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
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
38438430 (PubMed )
Supplement: 41598_2024_53358_MOESM2_ESM.xlsx › Supp_table_1_variants_analyzed
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
O'Grady L et al.
American Journal of Medical Genetics. Part A, 2022
Select a paper to view details