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
Delineating the expanding phenotype associated with SCAPER gene mutation.
Fasham J 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
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ et al.
American Journal of Human Genetics, 2017
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