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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS12

Variant:p.S52delFs

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BBS12

NM_152618.3:p.S52delFs

hg38:chr4:122742046 TC>T

Associated Papers

Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet-Biedl syndrome.

Tao T et al.

European Journal of Ophthalmology, 2022

36325687 (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."