Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome

  1. Villate, O.
  2. Ibarluzea, N.
  3. Fraile-Bethencourt, E.
  4. Valenzuela, A.
  5. Velasco, E.A.
  6. Grozeva, D.
  7. Raymond, F.L.
  8. Botella, M.P.
  9. Tejada, M.-I.
Revista:
Frontiers in Genetics

ISSN: 1664-8021

Año de publicación: 2018

Volumen: 9

Número: JAN

Tipo: Artículo

DOI: 10.3389/FGENE.2018.00007 GOOGLE SCHOLAR lock_openAcceso abierto editor