|
rs121908629
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genetics of GNE myopathy in the non-Jewish Persian population.
|
25966635 |
2016 |
|
rs121908629
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation update for GNE gene variants associated with GNE myopathy.
|
24796702 |
2014 |
|
rs121908629
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
|
24695763 |
2014 |
|
rs121908629
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
|
24027297 |
2014 |
|
rs121908629
|
|
T |
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 |
|
rs121908629
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.
|
20059379 |
2010 |
|
rs121908629
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family.
|
17098358 |
2007 |
|
rs121908629
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.
|
17261181 |
2007 |
|
rs121908629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
|
15146476 |
2004 |
|
rs121908629
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
|
15146476 |
2004 |
|
rs121908629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
|
12913203 |
2003 |
|
rs121908629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
|
12811782 |
2003 |
|
rs121908629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
|
12497639 |
2003 |
|
rs121908629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
|
11916006 |
2002 |
|
rs121908629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
|
12409274 |
2002 |
|
rs121908629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
|
12473780 |
2002 |
|
rs121908629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
|
12473769 |
2002 |
|
rs121908629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
|
12177386 |
2002 |
|
rs121908629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
|
12473753 |
2002 |
|
rs121908629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
|
12325084 |
2002 |
|
rs121908629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
|
11528398 |
2001 |
|
rs121908629
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
|
11528398 |
2001 |
|
rs121908629
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|