000 01322 a2200433 4500
005 20250513092924.0
264 0 _c19960905
008 199609s 0 0 eng d
022 _a0340-6717
024 7 _a10.1007/s004390050191
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMautner, V F
245 0 0 _aPhenotypic variability in two families with novel splice-site and frameshift NF2 mutations.
_h[electronic resource]
260 _bHuman genetics
_cAug 1996
300 _a203-6 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aBase Sequence
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aDNA
_xgenetics
650 0 4 _aFemale
650 0 4 _aFrameshift Mutation
650 0 4 _aGenes, Neurofibromatosis 2
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
650 0 4 _aNeurofibromatosis 2
_xgenetics
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aRNA Splicing
_xgenetics
700 1 _aBaser, M E
700 1 _aKluwe, L
773 0 _tHuman genetics
_gvol. 98
_gno. 2
_gp. 203-6
856 4 0 _uhttps://doi.org/10.1007/s004390050191
_zAvailable from publisher's website
999 _c8695630
_d8695630