rs111033670
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.
|
28644047 |
2017 |
rs111033670
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Gastrointestinal Health in Classic Galactosemia.
|
27363831 |
2017 |
rs111033670
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
|
27308838 |
2017 |
rs111033670
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.
|
28644047 |
2017 |
rs111033670
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
|
27005423 |
2016 |
rs111033670
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
|
27005423 |
2016 |
rs111033670
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
|
27005423 |
2016 |
rs111033670
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
|
25592817 |
2015 |
rs111033670
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
|
25614870 |
2014 |
rs111033670
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.
|
22743281 |
2012 |
rs111033670
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
|
22461411 |
2012 |
rs111033670
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
rs111033670
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
|
23022339 |
2012 |
rs111033670
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
rs111033670
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
|
20008339 |
2010 |
rs111033670
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
|
20008339 |
2010 |
rs111033670
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
|
18956253 |
2008 |
rs111033670
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.
|
17876724 |
2007 |
rs111033670
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.
|
17876724 |
2007 |
rs111033670
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational spectrum of classical galactosaemia in Spain and Portugal.
|
17041746 |
2006 |
rs111033670
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of novel mutations in classical galactosemia.
|
15841485 |
2005 |
rs111033670
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Extended [13C]galactose oxidation studies in patients with galactosemia.
|
15172000 |
2004 |
rs111033670
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency.
|
14728988 |
2004 |
rs111033670
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Verbal dyspraxia and galactosemia.
|
12595586 |
2003 |
rs111033670
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Verbal dyspraxia and galactosemia.
|
12595586 |
2003 |