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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS5

Variant:p.I187insFs

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BBS5

NM_152384.3:p.I187insFs

hg38:chr2:169493776 A>AAG

Associated Papers

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.

Villanueva-Mendoza C et al.

Genes, 2021

34828430 (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."