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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...

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Detalles Bibliográficos
Autores principales: Mackels, Laurane, Liu, Xincheng, Bonne, Gisèle, Servais, Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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