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 |