Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.A447Splc
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BBS1

NM_024649.5:p.A447Splc

Associated Papers

Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.

Gnanasekaran H et al.

Clinical Genetics, 2023

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

Sathya Priya C et al.

Clinical Genetics, 2015

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Beales PL et al.

American Journal of Human Genetics, 2003

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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."