rs201725369
|
Entrez Id: |
203859 |
Gene Symbol: |
ANO5 |
ANO5
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
T |
0.800 |
CausalMutation |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
rs201725369
|
Entrez Id: |
203859 |
Gene Symbol: |
ANO5 |
ANO5
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
rs201725369
|
Entrez Id: |
203859 |
Gene Symbol: |
ANO5 |
ANO5
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
|
25891276 |
2015 |
rs201725369
|
Entrez Id: |
203859 |
Gene Symbol: |
ANO5 |
ANO5
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
T |
0.800 |
CausalMutation |
CLINVAR |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
|
25891276 |
2015 |
rs201725369
|
Entrez Id: |
203859 |
Gene Symbol: |
ANO5 |
ANO5
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic features of anoctaminopathy in Saudi Arabia.
|
25864073 |
2015 |
rs201725369
|
Entrez Id: |
203859 |
Gene Symbol: |
ANO5 |
ANO5
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
T |
0.800 |
CausalMutation |
CLINVAR |
Dilated cardiomyopathy in patients with mutations in anoctamin 5.
|
23041008 |
2013 |
rs201725369
|
Entrez Id: |
203859 |
Gene Symbol: |
ANO5 |
ANO5
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
T |
0.800 |
CausalMutation |
CLINVAR |
Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.
|
23670307 |
2013 |
rs201725369
|
Entrez Id: |
203859 |
Gene Symbol: |
ANO5 |
ANO5
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
|
22499103 |
2012 |
rs201725369
|
Entrez Id: |
203859 |
Gene Symbol: |
ANO5 |
ANO5
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
T |
0.800 |
CausalMutation |
CLINVAR |
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
|
22499103 |
2012 |
rs201725369
|
Entrez Id: |
203859 |
Gene Symbol: |
ANO5 |
ANO5
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
|
20096397 |
2010 |