Associated Papers
Renpenning syndrome related to a missense variant in polyglutamine-binding protein 1 (PQBP1): Two pediatric cases from a Chinese family and literature review.
Pan J et al.
Applied Neuropsychology. Child, 2025
The role of PQBP1 in neural development and function.
Cheng S et al.
Biochemical Society Transactions, 2023
[Frameshift mutations in the PQBP1 gene prevent its interaction with the splicing factor U5-15kD].
Mizuguchi M
Seikagaku. the Journal of Japanese Biochemical Society, 2015
Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD.
Mizuguchi M et al.
Nature Communications, 2014
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
Rejeb I et al.
European Journal of Medical Genetics, 0
Select a paper to view details