Clinical spectrum of individuals with pathogenic
N
F1
missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation inTAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome