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A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9.
Shravya, Mangalore S; Mathew, Mary; Vasudeva, Akhila; Girisha, Katta M; Nayak, Shalini S.
Afiliación
  • Shravya MS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Mathew M; Department of Pathology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Vasudeva A; Department of Obstetrics and Gynaecology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Clin Genet ; 103(1): 127-129, 2023 01.
Article en En | MEDLINE | ID: mdl-36210633
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Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: India
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: India