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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIX3

Variant:p.R258delFs

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SIX3

NM_005413.4:p.R258delFs

hg38:chr2:44942876 CG>C

Associated Papers

Rare heterozygous missense variants in VSX2 are associated with retinal detachment.

Brock DC et al.

Plos Genetics, 2026

41632798 (PubMed )

Supplement: pgen.1012027.s016.xlsx › S11_Table_-_pathogenic_variants

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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."