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Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon.
Wonkam, Ambroise; Lebeko, Kamogelo; Mowla, Shaheen; Noubiap, Jean Jacques; Chong, Mike; Pare, Guillaume.
Afiliación
  • Wonkam A; Department of Medicine, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Lebeko K; Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Mowla S; Department of Medicine, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Noubiap JJ; Department of Pathology, Division of Haematology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Chong M; Centre for Heart Rhythm Disorders, South Australian Health and Medical Research Institute (SAHMRI, University of Adelaide and Royal Adelaide Hospital, Adelaide, Australia.
  • Pare G; Population Health Research Institute, Hamilton Health Sciences and McMaster University, Hamilton, ON, Canada.
Mol Genet Genomic Med ; 9(3): e1609, 2021 03.
Article en En | MEDLINE | ID: mdl-33528103
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura / Glutarredoxinas / Pérdida Auditiva Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male País/Región como asunto: Africa Idioma: En Revista: Mol Genet Genomic Med Año: 2021 Tipo del documento: Article País de afiliación: Sudáfrica Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura / Glutarredoxinas / Pérdida Auditiva Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male País/Región como asunto: Africa Idioma: En Revista: Mol Genet Genomic Med Año: 2021 Tipo del documento: Article País de afiliación: Sudáfrica Pais de publicación: Estados Unidos