Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.L50H
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BBS5

NM_152384.3:p.L50H

Associated Papers

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Redin C et al.

Journal of Medical Genetics, 2012

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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."