TY  - GEN
AU  - Mautner,V F
AU  - Baser,M E
AU  - Kluwe,L
TI  - Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations
SN  - 0340-6717
PY  - 1996///0905
KW  - Adolescent
KW  - Adult
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - DNA
KW  - genetics
KW  - Female
KW  - Frameshift Mutation
KW  - Genes, Neurofibromatosis 2
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Neurofibromatosis 2
KW  - Pedigree
KW  - Phenotype
KW  - RNA Splicing
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s004390050191
ER  -