|
rs748949603
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.
|
27858732 |
2015 |
|
rs748949603
|
|
|
0.810 |
GeneticVariation |
BEFREE |
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
|
26231298 |
2015 |
|
rs748949603
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
|
26231298 |
2015 |
|
rs748949603
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
|
24695763 |
2014 |
|
rs748949603
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.
|
22196754 |
2011 |
|
rs748949603
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
In the present eight patients with DMRV, direct sequencing analysis revealed one homozygous mutation of c.1760T>C (p.I587T) and seven compound heterozygous mutations in the GNE gene.
|
21307865 |
2011 |
|
rs748949603
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
|
20300792 |
2010 |
|
rs748949603
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
|
16503651 |
2006 |
|
rs748949603
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
|
15146476 |
2004 |
|
rs748949603
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
|
12811782 |
2003 |
|
rs748949603
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
|
12497639 |
2003 |
|
rs748949603
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
|
12497639 |
2003 |
|
rs748949603
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
|
12913203 |
2003 |
|
rs748949603
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
|
12473780 |
2002 |
|
rs748949603
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
|
11916006 |
2002 |
|
rs748949603
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
|
12473753 |
2002 |
|
rs748949603
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
|
12409274 |
2002 |
|
rs748949603
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
|
12177386 |
2002 |
|
rs748949603
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
|
12473769 |
2002 |
|
rs748949603
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
|
12325084 |
2002 |
|
rs748949603
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
|
11528398 |
2001 |
|
rs748949603
|
|
G |
0.810 |
GeneticVariation |
CLINVAR |
|
|
|