|
rs773729410
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
|
26231298 |
2015 |
|
rs773729410
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
|
26231298 |
2015 |
|
rs773729410
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
|
24027297 |
2014 |
|
rs773729410
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Non-specific accumulation of glycosphingolipids in GNE myopathy.
|
24136589 |
2014 |
|
rs773729410
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Mutation update for GNE gene variants associated with GNE myopathy.
|
24796702 |
2014 |
|
rs773729410
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Non-specific accumulation of glycosphingolipids in GNE myopathy.
|
24136589 |
2014 |
|
rs773729410
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
|
22507750 |
2012 |
|
rs773729410
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
|
22507750 |
2012 |
|
rs773729410
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.
|
21307865 |
2011 |
|
rs773729410
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
|
19917666 |
2010 |
|
rs773729410
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.
|
20346669 |
2010 |
|
rs773729410
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
|
15987957 |
2005 |
|
rs773729410
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
|
15987957 |
2005 |
|
rs773729410
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
|
15146476 |
2004 |
|
rs773729410
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
|
12811782 |
2003 |
|
rs773729410
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
|
12497639 |
2003 |
|
rs773729410
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
|
12913203 |
2003 |
|
rs773729410
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
|
12409274 |
2002 |
|
rs773729410
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
|
11916006 |
2002 |
|
rs773729410
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
|
12177386 |
2002 |
|
rs773729410
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
|
12325084 |
2002 |
|
rs773729410
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
|
12473780 |
2002 |
|
rs773729410
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
|
12473769 |
2002 |
|
rs773729410
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
|
12409274 |
2002 |
|
rs773729410
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
|
12409274 |
2002 |