rs1554494372
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
|
19603532 |
2009 |
rs1554494372
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Holoprosencephaly-like phenotype: clinical and genetic perspectives.
|
17001669 |
2006 |
rs1554494372
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor.
|
15942952 |
2005 |
rs1554494372
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Single median maxillary central incisor, hypophyseal tumor, and SHH mutation.
|
15942953 |
2005 |
rs1554494372
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.
|
16282375 |
2005 |
rs1554494372
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.
|
15107988 |
2004 |
rs1554494372
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
|
15221788 |
2004 |
rs1554494372
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
|
11479728 |
2001 |
rs1554494372
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
|
10556296 |
1999 |
rs1554494372
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
|
10441331 |
1999 |
rs1554494372
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
|
9302262 |
1997 |
rs1554494372
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
|
8896572 |
1996 |