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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2012
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Materias: | |
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 |