Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.Y197fs
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BBS12

NM_152618.3:p.Y197fs

Associated Papers

Truncating mutations in BBS10 and BBS12 impair proteostasis and ciliary architecture in Bardet-Biedl Syndrome.

Liu X et al.

Experimental Eye Research, 2025

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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."