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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS2

Variant:p.S15_P16del2

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BBS2

NM_031885.5:p.S15_P16del2

hg38:chr16:56519814 GGGGGCT>G

Associated Papers

Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.

Demas N et al.

Bmc Medical Genomics, 2025

40877827 (PubMed )

Supplement: 12920_2025_2186_MOESM3_ESM.pdf

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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."