Varaico: Literature-Extracted Genetic Variants

Gene:SCAPER
Variant:p.R366*
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SCAPER

NM_020843.4:p.R366*

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

Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Kahrizi K et al.

American Journal of Medical Genetics. Part A, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."