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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS1

Variant:p.R160delFs

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BBS1

NM_024649.5:p.R160delFs

hg38:chr11:66515584 CCG>C

Associated Papers

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

Jiman OA et al.

European Journal of Human Genetics : Ejhg, 2020

31836858 (PubMed )

Supplement: 41431_2019_548_MOESM1_ESM.docx

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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."