rs80338802
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Clinical variability in calpainopathy: what makes the difference?
|
12461690 |
2002 |
rs80338802
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
A homozygous R769Q mutation in the calpain-3 gene and absence of muscle calpain-3 protein confirmed a calpainopathy.
|
14645990 |
2003 |
rs80338802
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene.
|
9246005 |
1997 |
rs80338802
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus.
|
7795603 |
1995 |
rs80338802
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.
|
7762565 |
1995 |
rs80338802
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
7720071 |
1995 |
rs80338802
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
|
9642272 |
1998 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Respiratory chain deficiency in nonmitochondrial disease.
|
27066545 |
2015 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
|
8624690 |
1996 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Protein sequences encode safeguards against aggregation.
|
19156839 |
2009 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.
|
10102422 |
1999 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
|
15221789 |
2004 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
|
9642272 |
1998 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
|
9150160 |
1997 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
|
9642272 |
1998 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Screening of the CAPN3 gene in patients with possible LGMD2A.
|
16650086 |
2006 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Calpainopathy-a survey of mutations and polymorphisms.
|
10330340 |
1999 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.
|
10102422 |
1999 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Calpainopathy-a survey of mutations and polymorphisms.
|
10330340 |
1999 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Respiratory chain deficiency in nonmitochondrial disease.
|
27066545 |
2015 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Screening of the CAPN3 gene in patients with possible LGMD2A.
|
16650086 |
2006 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
7720071 |
1995 |
rs121434547
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
|
16141003 |
2005 |