Varaico: Literature-Extracted Genetic Variants

Gene:BBS9
Variant:p.N130delFs
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BBS9

NM_198428.3:p.N130delFs

Associated Papers

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

Mary L et al.

Clinical Genetics, 2019

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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."