Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.Y197C
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BBS10

NM_024685.4:p.Y197C

Associated Papers

Ciliopathy organoid models: a comprehensive review.

Kuzinska MZ et al.

American Journal of Physiology. Cell Physiology, 2024

Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells.

Williams J et al.

Frontiers in Cell and Developmental Biology, 2023

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

Kidney failure in Bardet-Biedl syndrome.

Meyer JR et al.

Clinical Genetics, 2022

[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."