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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GUCA1A

Variant:p.K67_D68Splc

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GUCA1A

NM_001384910.1:p.K67_D68Splc

hg38:chr6:42173818 A>G

Associated Papers

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

Huang YS et al.

Investigative Ophthalmology & Visual Science, 2025

41060150 (PubMed )

Supplement: iovs-66-13-12_s002.xlsx › Table_S2-cloning_primers

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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."