Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases (2022)
- Authors:
- Autor USP: KIM, CHONG AE - FM
- Unidade: FM
- DOI: 10.1038/s41598-022-11932-z
- Subjects: DOENÇAS RARAS; PAIS; SEQUENCIAMENTO GENÉTICO; BRASIL
- Language: Inglês
- Imprenta:
- Source:
- Título: Scientific reports
- ISSN: 2045-2322
- Volume/Número/Paginação/Ano: v. 12, n. 1, article ID 7764, 9p, 2022
- Este artigo possui versão em acesso aberto
- URL de acesso aberto
- PDF de acesso aberto
- Versão do Documento: Versão publicada (Published version)
-
Status: Artigo publicado em periódico de acesso aberto (Gold Open Access) -
ABNT
QUAIO, Caio Robledo D'Angioli Costa et al. Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases. Scientific reports, v. 12, n. 1, 2022Tradução . . Disponível em: https://doi.org/10.1038/s41598-022-11932-z. Acesso em: 11 mar. 2026. -
APA
Quaio, C. R. D. 'A. C., Ceroni, J. R. M., Cervato, M. C., Thurow, H. S., Moreira, C. M., Trindade, A. C. G., et al. (2022). Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases. Scientific reports, 12( 1). doi:10.1038/s41598-022-11932-z -
NLM
Quaio CRD'AC, Ceroni JRM, Cervato MC, Thurow HS, Moreira CM, Trindade ACG, Furuzawa CR, Souza RRF de, Perazzio SF, Dutra AP, Kim CA. Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases [Internet]. Scientific reports. 2022 ; 12( 1):[citado 2026 mar. 11 ] Available from: https://doi.org/10.1038/s41598-022-11932-z -
Vancouver
Quaio CRD'AC, Ceroni JRM, Cervato MC, Thurow HS, Moreira CM, Trindade ACG, Furuzawa CR, Souza RRF de, Perazzio SF, Dutra AP, Kim CA. Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases [Internet]. Scientific reports. 2022 ; 12( 1):[citado 2026 mar. 11 ] Available from: https://doi.org/10.1038/s41598-022-11932-z - NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
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