Varaico: Literature-Extracted Genetic Variants

Gene:SCAPER
Variant:p.Y118*
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SCAPER

NM_001145923.2:p.Y118*

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

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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."