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Multiplexed assay of variant effect reveals residues of functional importance in the BRCA1 coiled-coil and serine cluster domains

Delineating functionally normal variants from functionally abnormal variants in tumor suppressor proteins is critical for cancer surveillance, prognosis, and treatment options. BRCA1 is a protein that has many variants of uncertain significance which are not yet classified as functionally normal or...

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Detalles Bibliográficos
Autores principales: Nagy, Gregory, Diabate, Mariame, Banerjee, Tapahsama, Adamovich, Aleksandra I., Smith, Nahum, Jeon, Hyeongseon, Dhar, Shruti, Liu, Wenfang, Burgess, Katherine, Chung, Dongjun, Starita, Lea M., Parvin, Jeffrey D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10621863/
https://www.ncbi.nlm.nih.gov/pubmed/37917606
http://dx.doi.org/10.1371/journal.pone.0293422