Varaico: Literature-Extracted Genetic Variants

Gene:BBS9
Variant:p.Q597Splc
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BBS9

NM_198428.3:p.Q597Splc

Associated Papers

Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.

Jeziorny K et al.

Genes, 2020

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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."