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Copy number variation (CNV) identification, interpretation, and database from Brazilian patients

Copy number variations (CNVs) constitute an important class of variation in the human genome and the interpretation of their pathogenicity considering different frequencies across populations is still a challenge for geneticists. Since the CNV databases are predominantly composed of European and non...

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Detalles Bibliográficos
Autores principales: de Godoy, Victória Cabral Silveira Monteiro, Bellucco, Fernanda Teixeira, Colovati, Mileny, de Oliveira-Junior, Hélio Rodrigues, Moysés-Oliveira, Mariana, Melaragno, Maria Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7783508/
https://www.ncbi.nlm.nih.gov/pubmed/33306777
http://dx.doi.org/10.1590/1678-4685-GMB-2019-0218