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Unidad de Genética (Hospital Universitario de Canarias)

General information

Unidad de Genética
Hospital Universitario de Canarias
Carretera Ofra S/N
La Laguna, Santa Cruz de Tenerife
Canarias
Spain - 38320
https://www3.gobiernodecanarias.org/sanidad/scs/organica.jsp?idCarpeta=3da5f513-541b-11de-9665-998e1388f7ed
Organization ID: 509623

Personnel

  • Ana Alonso Larruga, Variant scientist/curator
    Phone: +34 922679009
    Email: [email protected]
  • Felícitas Díaz-Flores Estévez, Lab Director
    Phone: +34 922679009
    Email: [email protected]
  • Agustín Francisco González Rivero, Variant scientist/curator
    Phone: +34 922679009
    Email: [email protected]
  • Fuensanta Gómez Bernal, Variant scientist/curator
    Phone: +34 922679009
    Email: [email protected]
  • Antonia Pérez Cejas, Variant scientist/curator
    Phone: +34 922679009
    Email: [email protected]

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1

Gene

GeneSubmissionsLast Updated
EMD1Sep 20, 2024

Condition

NameSubmissionsLast Updated
Emery-Dreifuss muscular dystrophy 1, X-linked1Sep 20, 2024