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Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals.
Naslavsky, Michel S; Scliar, Marília O; Nunes, Kelly; Wang, Jaqueline Y T; Yamamoto, Guilherme L; Guio, Heinner; Tarazona-Santos, Eduardo; Duarte, Yeda A O; Passos-Bueno, Maria Rita; Meyer, Diogo; Zatz, Mayana.
Affiliation
  • Naslavsky MS; Human Genome and Stem Cell Research Center, University of São Paulo, São Paulo, São Paulo, Brazil.
  • Scliar MO; Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, São Paulo, Brazil.
  • Nunes K; Hospital Israelita Albert Einstein, São Paulo, São Paulo, Brazil.
  • Wang JYT; Human Genome and Stem Cell Research Center, University of São Paulo, São Paulo, São Paulo, Brazil.
  • Yamamoto GL; Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, São Paulo, Brazil.
  • Guio H; Human Genome and Stem Cell Research Center, University of São Paulo, São Paulo, São Paulo, Brazil.
  • Tarazona-Santos E; Human Genome and Stem Cell Research Center, University of São Paulo, São Paulo, São Paulo, Brazil.
  • Duarte YAO; Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil.
  • Passos-Bueno MR; Orthopedic Research Labs, Boston Children's Hospital and Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
  • Meyer D; Laboratório DASA, São Paulo, São Paulo, Brazil.
  • Zatz M; Instituto Nacional de Salud, Lima, Peru.
Am J Med Genet C Semin Med Genet ; 187(3): 357-363, 2021 09.
Article in En | MEDLINE | ID: mdl-34189818

Full text: 1 Database: MEDLINE Main subject: Genetic Variation / Genomics Type of study: Diagnostic_studies Limits: Aged / Humans Country/Region as subject: America do sul / Brasil Language: En Year: 2021 Type: Article

Full text: 1 Database: MEDLINE Main subject: Genetic Variation / Genomics Type of study: Diagnostic_studies Limits: Aged / Humans Country/Region as subject: America do sul / Brasil Language: En Year: 2021 Type: Article