rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
|
7496169 |
1995 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
|
9455977 |
1997 |
rs1482760341
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients.
|
23062701 |
2013 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
|
12963370 |
2003 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.
|
17653917 |
2007 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
|
8528216 |
1995 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
|
7870076 |
1994 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
|
8351519 |
1993 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
|
9131652 |
1997 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
|
8446170 |
1993 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.
|
10400992 |
1999 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
|
16324086 |
2005 |
rs1482760341
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.
|
27978769 |
2017 |
rs1482760341
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Exposure of hydrophobic surfaces initiates aggregation of diverse ALS-causing superoxide dismutase-1 mutants.
|
20399791 |
2010 |
rs1482760341
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants.
|
15987780 |
2005 |
rs1482760341
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis.
|
20404329 |
2010 |
rs1482760341
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families.
|
20309572 |
2010 |
rs1482760341
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.
|
28222900 |
2017 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
|
19741096 |
2009 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
|
7951252 |
1994 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
|
21914052 |
2012 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
|
8069312 |
1994 |
rs1482760341
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
|
8907321 |
1996 |
rs1482760341
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
|
7496169 |
1995 |
rs1482760341
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
|
19483195 |
2009 |