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The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis
GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome and lethal arthrogryposis with anterior horn cell disease; phenotypes reported in...
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| Publicat a: | Cold Spring Harb Mol Case Stud |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Cold Spring Harbor Laboratory Press
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5701308/ https://ncbi.nlm.nih.gov/pubmed/28729373 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002063 |
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