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DNA repair function scores for 2172 variants in the BRCA1 amino-terminus

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Single nucleotide variants are the most frequent type of sequence changes detected in the genome and these are frequently variants of uncertain significance (VUS). VUS are changes in DNA for which disease risk association is unknown. Thus, methods that classify the functional impact of a VUS can be...

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Detalles Bibliográficos
Autores principales:	Diabate, Mariame, Islam, Muhtadi M., Nagy, Gregory, Banerjee, Tapahsama, Dhar, Shruti, Smith, Nahum, Adamovich, Aleksandra I., Starita, Lea M., Parvin, Jeffrey D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449183/ https://www.ncbi.nlm.nih.gov/pubmed/37578980 http://dx.doi.org/10.1371/journal.pgen.1010739

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