A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome

Autor: Permanyer, Eduard, Laurie, Steven, Blasco-Lucas, Arnau, Maldonado, Giuliana, Amador-Catalan, Amaya, Ferrer-Curriu, Gemma, Fuste, Berta, Perez, Maria L., Gonzalez-Alujas, Teresa, Beltran, Sergi, Comas-Riu, Jaume, Bardají, Alfredo, Evangelista, Artur, Galiñanes, Manuel
Zdroj: In European Journal of Medical Genetics April 2020 63(4)
Databáze: ScienceDirect