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Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population.
Kingdom, Rebecca; Tuke, Marcus; Wood, Andrew; Beaumont, Robin N; Frayling, Timothy M; Weedon, Michael N; Wright, Caroline F.
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  • Kingdom R; Institute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, RILD Building, Barrack Road, Exeter EX2 5DW, UK.
  • Tuke M; Institute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, RILD Building, Barrack Road, Exeter EX2 5DW, UK.
  • Wood A; Institute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, RILD Building, Barrack Road, Exeter EX2 5DW, UK.
  • Beaumont RN; Institute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, RILD Building, Barrack Road, Exeter EX2 5DW, UK.
  • Frayling TM; Institute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, RILD Building, Barrack Road, Exeter EX2 5DW, UK.
  • Weedon MN; Institute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, RILD Building, Barrack Road, Exeter EX2 5DW, UK.
  • Wright CF; Institute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, RILD Building, Barrack Road, Exeter EX2 5DW, UK. Electronic address: caroline.wright@exeter.ac.uk.
Am J Hum Genet ; 109(7): 1308-1316, 2022 07 07.
Article en En | MEDLINE | ID: mdl-35700724
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Mutación Missense Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Mutación Missense Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido