|
rs1064793840
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs114284669
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs11553519
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs11903206
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
|
17886299 |
2007 |
|
rs11903206
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
|
15689448 |
2005 |
|
rs11903206
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.
|
10399756 |
1999 |
|
rs11903206
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
|
9536084 |
1998 |
|
rs138049094
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Consensus statement on standard of care for congenital muscular dystrophies.
|
21078917 |
2010 |
|
rs138049094
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
|
17886299 |
2007 |
|
rs138049094
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
|
15689448 |
2005 |
|
rs138049094
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.
|
10399756 |
1999 |
|
rs138049094
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
|
9536084 |
1998 |
|
rs146092501
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
|
17886299 |
2007 |
|
rs146092501
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
|
15689448 |
2005 |
|
rs146092501
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.
|
10399756 |
1999 |
|
rs146092501
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
|
9536084 |
1998 |
|
rs200478135
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Consensus statement on standard of care for congenital muscular dystrophies.
|
21078917 |
2010 |
|
rs201093313
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Consensus statement on standard of care for congenital muscular dystrophies.
|
21078917 |
2010 |
|
rs201093313
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
|
15955946 |
2005 |
|
rs201093313
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
|
15689448 |
2005 |
|
rs201093313
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
|
11865138 |
2002 |
|
rs201093313
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.
|
8782832 |
1996 |
|
rs35227432
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Consensus statement on standard of care for congenital muscular dystrophies.
|
21078917 |
2010 |
|
rs35227432
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
|
17886299 |
2007 |
|
rs35227432
|
|
BETHLEM MYOPATHY 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
|
15689448 |
2005 |