rs1555872965
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
|
15689448 |
2005 |
rs1555872965
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.
|
23564457 |
2013 |
rs1555872965
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Early onset collagen VI myopathies: Genetic and clinical correlations.
|
20976770 |
2010 |
rs1555872965
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
|
22426012 |
2012 |
rs1555872965
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
|
25533456 |
2015 |
rs1555872965
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
|
11865138 |
2002 |
rs1555872965
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
|
25204870 |
2015 |
rs1555872965
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
|
18852439 |
2008 |
rs1555872965
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
|
24038877 |
2013 |
rs1555872965
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive Bethlem myopathy.
|
19949035 |
2009 |
rs1555873084
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Early onset collagen VI myopathies: Genetic and clinical correlations.
|
20976770 |
2010 |
rs1555873084
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.
|
23564457 |
2013 |
rs1555873084
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
|
25533456 |
2015 |
rs1555873084
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
|
15689448 |
2005 |
rs1555873084
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
|
18852439 |
2008 |
rs1555873084
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive Bethlem myopathy.
|
19949035 |
2009 |
rs1555873084
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
|
11865138 |
2002 |
rs1555873084
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
|
25204870 |
2015 |
rs1555873084
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
|
24038877 |
2013 |
rs1555873084
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
|
22426012 |
2012 |