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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS12

Variant:p.T380delFs

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BBS12

NM_152618.3:p.T380delFs

hg38:chr4:122743031 CA>C

Associated Papers

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

Perea-Romero I et al.

Npj Genomic Medicine, 2022

35835773 (PubMed )

Supplement: 41525_2022_311_MOESM2_ESM.xlsx › Table_S4

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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."