Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.L348_S349delFs
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BBS10

NM_024685.4:p.L348_S349delFs

Associated Papers

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.

Bonnefond A et al.

Diabetes Care, 2014

BBS10 mutations are common in 'Meckel'-type cystic kidneys.

Putoux A et al.

Journal of Medical Genetics, 2010

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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."