Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
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
Human Mutation | October 9, 2019 | Volume: 41 | Issue: 1 | Pages: 299-315