Associated Papers
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Aspromonte MC et al.
Human Genetics, 2025
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
Phenotypic and molecular insights into PQBP1-related intellectual disability.
Abdel-Salam GMH et al.
American Journal of Medical Genetics. Part A, 2018
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