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
- Villate, O.
- Ibarluzea, N.
- Fraile-Bethencourt, E.
- Valenzuela, A.
- Velasco, E.A.
- Grozeva, D.
- Raymond, F.L.
- Botella, M.P.
- Tejada, M.-I.
Aldizkaria:
Frontiers in Genetics
ISSN: 1664-8021
Argitalpen urtea: 2018
Alea: 9
Zenbakia: JAN
Mota: Artikulua
