rs1554658910
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy.
|
25978849 |
2015 |
rs1554658910
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
|
16503651 |
2006 |
rs1554658910
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
|
15146476 |
2004 |
rs1554658910
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
|
15146476 |
2004 |
rs1554658910
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
|
12811782 |
2003 |
rs1554658910
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
|
12497639 |
2003 |
rs1554658910
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
|
12913203 |
2003 |
rs1554658910
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
|
12473780 |
2002 |
rs1554658910
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
|
12473769 |
2002 |
rs1554658910
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
|
12473753 |
2002 |
rs1554658910
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
|
11916006 |
2002 |
rs1554658910
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
|
12325084 |
2002 |
rs1554658910
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
|
12177386 |
2002 |
rs1554658910
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
|
12409274 |
2002 |
rs1554658910
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
|
11528398 |
2001 |