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Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis

Karen G Scheps1,2, Marcia A Hasenahuer3,4,5, Gustavo Parisi3

  • 1Departamento de Microbiología, Inmunología, Biotecnología y Genética, Cátedra de Genética, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Buenos Aires, Argentina.

Human Mutation
|September 26, 2019
PubMed

Keywords:
AHSPFoldXgnomADhemoglobinopathiessequence variantsstructural analyses

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