Varaico: Literature-Extracted Genetic Variants

Gene:SCAPER
Variant:p.E290delFs
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SCAPER

NM_020843.4:p.E290delFs

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

Syndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant.

Yassin SH et al.

Ophthalmic Genetics, 2024

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