|
rs104894422
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
|
30345904 |
2018 |
|
rs104894422
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
|
22095924 |
2012 |
|
rs104894422
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy.
|
20345928 |
2010 |
|
rs104894422
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan.
|
14981741 |
2004 |
|
rs104894422
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Limb-girdle muscular dystrophy type 2C (LGMD2C) is caused by mutations in the gamma-sarcoglycan gene where a founder Gypsy mutation C283Y was detected.
|
15479193 |
2004 |
|
rs104894422
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Thorough non-invasive cardiovascular studies were conducted in a series of ten gamma-sarcoglycanopathy Gypsy patients with the founder C283Y mutation in 13q12.
|
11053682 |
2000 |
|
rs104894422
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.
|
10714584 |
2000 |
|
rs104894422
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y.
|
9658457 |
1998 |
|
rs104894422
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
The clinical severity of all patients demonstrates that the C283Y missense mutation in a homozygous state causes a severe LGMD2C (DMD-like).
|
9781048 |
1998 |
|
rs104894422
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The clinical severity of all patients demonstrates that the C283Y missense mutation in a homozygous state causes a severe LGMD2C (DMD-like).
|
9781048 |
1998 |
|
rs104894422
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.
|
8968757 |
1996 |
|
rs104894422
|
|
A |
0.830 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs143009120
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
|
30345904 |
2018 |
|
rs104894423
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
|
rs200502077
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
|
rs104894423
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
|
25802879 |
2015 |
|
rs104894423
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
|
25802879 |
2015 |
|
rs547818652
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle.
|
25605665 |
2015 |
|
rs104894423
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C.
|
24534832 |
2014 |
|
rs104894423
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C.
|
24534832 |
2014 |
|
rs780348174
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C.
|
24638197 |
2014 |
|
rs786204786
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.
|
23929688 |
2014 |
|
rs786204786
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.
|
24552312 |
2014 |
|
rs104894423
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
|
22095924 |
2012 |
|
rs104894423
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
|
22095924 |
2012 |