Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.F90fs
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BBS12

NM_152618.3:p.F90fs

Associated Papers

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

Stoetzel C et al.

American Journal of Human Genetics, 2007

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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."