rs121908623
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of the metabolic defect in sialuria.
|
2808337 |
1989 |
rs121908623
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Dominant inheritance of sialuria, an inborn error of feedback inhibition.
|
11326336 |
2001 |
rs121908623
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.
|
10356312 |
1999 |
rs121908623
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.
|
10330343 |
1999 |
rs121908623
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Here we established a transgenic mouse line that expresses GNE containing the sialuria mutation R263L, in order to investigate the influence of an altered sialic acid concentration on the organism.
|
27966821 |
2017 |
rs121908622
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of the metabolic defect in sialuria.
|
2808337 |
1989 |
rs121908622
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.
|
10356312 |
1999 |
rs121908622
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Dominant inheritance of sialuria, an inborn error of feedback inhibition.
|
11326336 |
2001 |
rs121908622
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.
|
10330343 |
1999 |
rs121908627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.
|
20175955 |
2010 |
rs121908627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.
|
23549799 |
2013 |
rs121908627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
|
12497639 |
2003 |
rs121908627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
|
21708040 |
2011 |
rs121908627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutation update for GNE gene variants associated with GNE myopathy.
|
24796702 |
2014 |
rs121908627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Atypical presentation of GNE myopathy with asymmetric hand weakness.
|
25182749 |
2014 |
rs121908627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
GNE myopathy: current update and future therapy.
|
25002140 |
2015 |
rs121908627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.
|
28717665 |
2017 |
rs121908627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
|
11528398 |
2001 |
rs121908627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
GNE myopathy in India.
|
24005727 |
2014 |
rs121908627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.
|
23437777 |
2013 |
rs121908627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
|
27829678 |
2017 |
rs200763627
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs748949603
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs764698870
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs779694939
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|