Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman-like syndrome

Cinthia Aguilera, Elisabeth Gabau, Steve Laurie, Neus Baena, Sophia Derdak, Núria Capdevila, Ariadna Ramirez, Veronica Delgadillo, Maria Jesus García-Catalan, Carme Brun, Miriam Guitart, Anna Ruiz

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Medicine & Life Sciences