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Targeted copy number variant identification across the neurodegenerative disease spectrum

BACKGROUND: Although genetic factors are known to contribute to neurodegenerative disease susceptibility, there remains a large amount of heritability unaccounted for across the diagnoses. Copy number variants (CNVs) contribute to these phenotypes, but their presence and influence on disease state r...

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Detalles Bibliográficos
Autores principales: Dilliott, Allison A., Zhang, Kristina K., Wang, Jian, Abrahao, Agessandro, Binns, Malcolm A., Black, Sandra E., Borrie, Michael, Dowlatshahi, Dar, Finger, Elizabeth, Fischer, Corinne E., Frank, Andrew, Freedman, Morris, Grimes, David, Hassan, Ayman, Jog, Mandar, Kumar, Sanjeev, Lang, Anthony E., Mandzia, Jennifer, Masellis, Mario, Pasternak, Stephen H., Pollock, Bruce G., Rajji, Tarek K., Rogaeva, Ekaterina, Sahlas, Demetrios J., Saposnik, Gustavo, Sato, Christine, Seitz, Dallas, Shoesmith, Christen, Steeves, Thomas D. L., Swartz, Richard H., Tan, Brian, Tang‐Wai, David F., Tartaglia, Maria C., Turnbull, John, Zinman, Lorne, Hegele, Robert A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356547/
https://www.ncbi.nlm.nih.gov/pubmed/35666053
http://dx.doi.org/10.1002/mgg3.1986