Varaico: Literature-Extracted Genetic Variants

Gene:BBS9
Variant:p.G518Splc
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BBS9

NM_198428.3:p.G518Splc

Associated Papers

Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.

Suárez-González J et al.

Bmc Medical Genomics, 2021

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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."