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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL2A1

Variant:p.A647_G648Splc

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COL2A1

NM_001844.5:p.A647_G648Splc

hg38:chr12:47983742 G>C

Associated Papers

Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.

Huang YS et al.

Investigative Ophthalmology & Visual Science, 2025

41060150 (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."