Varaico: Literature-Extracted Genetic Variants

Gene:SCAPER
Variant:p.Y118fs
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SCAPER

NM_020843.4:p.Y118fs

Associated Papers

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

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H et al.

Nature, 2011

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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."