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

[Image: see text] Bardet-Biedl Syndrome (BBS) is a rare inherited disorder resulting in multiple organ dysfunctions, whose cardinal clinical features include cognitive impairment, obesity, and renal dysfunction. Although it is highly heterogeneous at genetic levels, BBS10 is one of the major causati...

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Autores principales: Gupta, Neha, Khan, Mudassar Ali, Capasso, Giovambattista, Zacchia, Miriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Chemical Society 2022
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9608418/
https://www.ncbi.nlm.nih.gov/pubmed/36312387
http://dx.doi.org/10.1021/acsomega.2c04522

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