Associated Papers
Genetic Disruption of Cilia-Associated Signaling Pathways in Patients with VACTERL Association.
Ritter J et al.
Children (basel, Switzerland), 2023
37238430 (PubMed )
Supplement: children-10-00882-s001.zip › children-2378361-supplementary.pdf
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
[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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