Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.L308F
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BBS10

NM_024685.4:p.L308F

Associated Papers

The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.

Milibari D et al.

Genes, 2024

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1

[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].

Dollfus H et al.

Medecine Sciences : M/s, 2006

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

Stoetzel C et al.

Nature Genetics, 2006

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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."