Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases

Genomic studies may generate massive amounts of data, bringing interpretation challenges. Efforts for the differentiation of benign and pathogenic variants gain importance. In this article, we used segregation analysis and other molecular data to reclassify to benign or likely benign several rare cl...

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Detalles Bibliográficos
Autores principales: Quaio, Caio Robledo D.’Angioli Costa, Ceroni, Jose Ricardo Magliocco, Cervato, Murilo Castro, Thurow, Helena Strelow, Moreira, Caroline Monaco, Trindade, Ana Carolina Gomes, Furuzawa, Cintia Reys, de Souza, Rafaela Rogerio Floriano, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Chung, Christine Hsiaoyun, Kim, Chong Ae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9095660/
https://www.ncbi.nlm.nih.gov/pubmed/35546177
http://dx.doi.org/10.1038/s41598-022-11932-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9095660/
https://www.ncbi.nlm.nih.gov/pubmed/35546177
http://dx.doi.org/10.1038/s41598-022-11932-z

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