|
rs761807915
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.720 |
GeneticVariation
|
BEFREE |
The D202N prion mutation has been associated with GSS pathology and up to now was only reported post mortem.
|
23436635 |
2013 |
|
rs761807915
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
|
19927125 |
2010 |
|
rs761807915
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.720 |
GeneticVariation
|
BEFREE |
In addition, PrP202N cells show increased sensitivity to free radicals, indicating that neuronal susceptibility to oxidative damage may account for the neurotoxicity observed in cases of GSS resulting from PrP D202N mutation.
|
17873292 |
2007 |
|
rs761807915
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.720 |
GeneticVariation
|
UNIPROT |
A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.
|
11709001 |
2001 |
|
rs761807915
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Novel PRNP sequence variant associated with familial encephalopathy.
|
10581485 |
1999 |
|
rs761807915
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.
|
9786248 |
1998 |
|
rs761807915
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation).
|
8797472 |
1996 |
|
rs761807915
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.
|
7783876 |
1995 |
|
rs761807915
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.720 |
GeneticVariation
|
UNIPROT |
A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.
|
7699395 |
1994 |
|
rs761807915
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.720 |
GeneticVariation
|
UNIPROT |
A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease.
|
7902972 |
1993 |
|
rs761807915
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.
|
1363810 |
1992 |
|
rs761807915
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
|
1439789 |
1992 |
|
rs761807915
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.720 |
GeneticVariation
|
UNIPROT |
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.
|
2564168 |
1989 |