Autor:
Pérez-Palma, E.
Saarentaus, E.
Ravoet, M.
De Ferrari, G.V.
Nürnberg, P.
Isidor, B.
Neubauer, B.A.
Lal, D.
Objective: After the recent publication of the first patients with disease-associated missense variants in the GRIN2D gene, we evaluate the effect of copy number variants (CNVs) overlapping this gene toward the presentation of neurodevelopmental disorders (NDDs). Methods: We explored ClinVar (num...
Enlace original:
http://repositorio.unab.cl/xmlui/handle/ria/9243
Pérez-Palma, E.
,
Saarentaus, E.
,
Ravoet, M.
,
De Ferrari, G.V.
,
Nürnberg, P.
,
Isidor, B.
,
Neubauer, B.A.
,
Lal, D.
,
[Duplications at 19q13.33 in patients with neurodevelopmental disorders]
,
Duplications at 19q13.33 in patients with neurodevelopmental disorders
