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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPP1

Variant:p.Y279*

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TPP1

NM_000391.4:p.Y279*

hg38:chr11:6616710 G>C

Associated Papers

Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.

Ibrahim M et al.

Ophthalmology Science, 2026

41732776 (PubMed )

Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease.

Huey J et al.

Ophthalmology Science, 0

40206986 (PubMed )

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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."