A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome.
Permanyer E, Laurie S, Blasco-Lucas A, Maldonado G, Amador-Catalan A, Ferrer-Curriu G, Fuste B, Perez ML, Gonzalez-Alujas T, Beltran S, Comas-Riu J, Bardají A, Evangelista A, Galiñanes M.
Permanyer E, et al. Among authors: comas riu j.
Eur J Med Genet. 2020 Apr;63(4):103854. doi: 10.1016/j.ejmg.2020.103854. Epub 2020 Jan 23.
Eur J Med Genet. 2020.
PMID: 31981616