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TOR1AIP1-Associated Nuclear Envelopathies
Human TOR1AIP1 encodes LAP1, a nuclear envelope protein expressed in most human tissues, which has been linked to various biological processes and human diseases. The clinical spectrum of diseases related to mutations in TOR1AIP1 is broad, including muscular dystrophy, congenital myasthenic syndrome...
Autores principales: | Mackels, Laurane, Liu, Xincheng, Bonne, Gisèle, Servais, Laurent |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10138496/ https://www.ncbi.nlm.nih.gov/pubmed/37108075 http://dx.doi.org/10.3390/ijms24086911 |
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