Varaico: Literature-Extracted Genetic Variants

Gene:BBS7
Variant:p.N130delFs
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BBS7

NM_176824.3:p.N130delFs

Associated Papers

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China.

Xin-Yi Z et al.

Frontiers in Genetics, 2023

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.

Kantaputra P et al.

Genes, 2022

Retinal dystrophies: A look beyond the eyes.

Tang VD et al.

American Journal of Ophthalmology Case Reports, 2022

Kidney failure in Bardet-Biedl syndrome.

Meyer JR et al.

Clinical Genetics, 2022

Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome.

Shen T et al.

Journal of the Chinese Medical Association : Jcma, 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."