rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
7720071 |
1995 |
rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
|
9150160 |
1997 |
rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
|
9642272 |
1998 |
rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.
|
10102422 |
1999 |
rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
Calpainopathy-a survey of mutations and polymorphisms.
|
10330340 |
1999 |
rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical variability in calpainopathy: what makes the difference?
|
12461690 |
2002 |
rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
|
15221789 |
2004 |
rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
Screening of the CAPN3 gene in patients with possible LGMD2A.
|
16650086 |
2006 |
rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
|
17979987 |
2007 |
rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
|
18563459 |
2008 |
rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
|
18854869 |
2009 |
rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
Respiratory chain deficiency in nonmitochondrial disease.
|
27066545 |
2015 |
rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
|
27234031 |
2017 |
rs863224959
|
Entrez Id: |
825 |
Gene Symbol: |
CAPN3 |
CAPN3
|
Limb-girdle muscular dystrophy type 2A
|
T |
0.700 |
CausalMutation |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |