Associated Papers
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM4_ESM.xlsx › NMD-escaping_mutations
Renpenning syndrome in a female.
Cho RY et al.
American Journal of Medical Genetics. Part A, 2020
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
Germanaud D et al.
Clinical Genetics, 2011
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
Musante L et al.
Human Mutation, 2010
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