Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.E384*
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BBS1

NM_024649.5:p.E384*

Associated Papers

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.

Rao AR et al.

Genes, 2023

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.

Grudzinska Pechhacker MK et al.

Investigative Ophthalmology & Visual Science, 2021

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

Imhoff O et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2011

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

Hichri H et al.

European Journal of Human Genetics : Ejhg, 2005

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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."