Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF5
Variant:p.P188L
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C1QTNF5

NM_001278431.2:p.P188L

Associated Papers

An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.

Torrell-Belzach N et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2024

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5.

Li RTH et al.

Investigative Ophthalmology & Visual Science, 2023

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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."