An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome

As genetic testing has become more accessible and affordable, variants of uncertain significance (VUS) are increasingly identified, and determining whether these variants play causal roles in disease is a major challenge. The known disease-associated Annexin A11 (ANXA11) mutations result in ANXA11 a...

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Detalles Bibliográficos
Autores principales: Snyder, Allison, Ryan, Veronica H, Hawrot, James, Lawton, Sydney, Ramos, Daniel M, Qi, Y Andy, Johnson, Kory, Reed, Xylena, Johnson, Nicholas L, Kollasch, Aaron W, Duffy, Megan, VandeVrede, Lawren, Cochran, J Nicholas, Miller, Bruce L, Toro, Camilo, Bielekova, Bibiana, Yokoyama, Jennifer S, Marks, Debora S, Kwan, Justin Y, Cookson, Mark R, Ward, Michael E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Journal Experts 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602153/
https://www.ncbi.nlm.nih.gov/pubmed/37886540
http://dx.doi.org/10.21203/rs.3.rs-3462973/v1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602153/
https://www.ncbi.nlm.nih.gov/pubmed/37886540
http://dx.doi.org/10.21203/rs.3.rs-3462973/v1

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