Associated Papers
Intellectual disability and retinitis pigmentosa due to a homozygous null SCAPER variant: a clinical and genetic insight with review of the literature.
Manav Yiğit Z et al.
Ophthalmic Genetics, 2025
SCAPER-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses.
Sharkia R et al.
Genes, 2024
Mechanism of ribosome-associated mRNA degradation during tubulin autoregulation.
Höpfler M et al.
Molecular Cell, 2023
Delineating the expanding phenotype associated with SCAPER gene mutation.
Fasham J et al.
American Journal of Medical Genetics. Part A, 2019
Homozygous variants in the gene SCAPER cause syndromic intellectual disability.
Kahrizi K et al.
American Journal of Medical Genetics. Part A, 2019
SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.
Jauregui R et al.
American Journal of Medical Genetics. Part A, 2019
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.
Tatour Y et al.
Journal of Medical Genetics, 2017
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