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BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

There are numerous genes for which loss-of-function mutations do not produce apparent phenotypes even though statistically significant quantitative changes to biological pathways are observed. To evaluate the biological meaning of small effects is challenging. Bardet–Biedl syndrome (BBS) is a hetero...

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Detalles Bibliográficos
Autores principales:	Zhang, Qihong, Seo, Seongjin, Bugge, Kevin, Stone, Edwin M., Sheffield, Val C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2012
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315203/ https://www.ncbi.nlm.nih.gov/pubmed/22228099 http://dx.doi.org/10.1093/hmg/dds004

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