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OFD1 : One gene, several disorders
The OFD1 protein is necessary for the formation of primary cilia and left–right asymmetry establishment but additional functions have also been ascribed to this multitask protein. When mutated, this protein results in a variety of phenotypes ranging from multiorgan involvement, such as OFD type I (O...
Autores principales: | Pezzella, Nunziana, Bove, Guglielmo, Tammaro, Roberta, Franco, Brunella |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303915/ https://www.ncbi.nlm.nih.gov/pubmed/35112477 http://dx.doi.org/10.1002/ajmg.c.31962 |
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