rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
GeneticVariation
BEFREE
The G131V mutation of human prion protein (HuPrP) was identified to be involved in Gerstmann-Sträussler-Scheinker syndrome .
31735962
2019
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
GeneticVariation
BEFREE
A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient.
21760536
2011
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
GeneticVariation
UNIPROT
Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
19927125
2010
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
GeneticVariation
BEFREE
A new PRNP mutation (G131V ) associated with Gerstmann-Sträussler-Scheinker disease .
11709001
2001
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
GeneticVariation
UNIPROT
A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.
11709001
2001
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
GeneticVariation
UNIPROT
Novel PRNP sequence variant associated with familial encephalopathy.
10581485
1999
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
GeneticVariation
UNIPROT
Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.
9786248
1998
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
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
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
GeneticVariation
UNIPROT
Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.
7783876
1995
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
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
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
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
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
GeneticVariation
UNIPROT
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
1439789
1992
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
GeneticVariation
UNIPROT
Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.
1363810
1992
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
0.830
GeneticVariation
UNIPROT
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.
2564168
1989
rs74315410
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Gerstmann-Straussler-Scheinker Disease
T
0.830
CausalMutation
CLINVAR