Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.S329L
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BBS10

NM_024685.4:p.S329L

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10).

Gupta N et al.

Acs Omega, 2022

36312387 (PubMed )
Supplement: ao2c04522_si_001.pdf

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

Zaghloul NA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

Seo S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

[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."