Varaico: Literature-Extracted Genetic Variants

Gene:SCAPER
Variant:p.F628C
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SCAPER

NM_020843.4:p.F628C

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

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
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