|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia.
|
26381711 |
2015 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region.
|
26115329 |
2015 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
|
23558838 |
2013 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.
|
20681998 |
2011 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.
|
15448513 |
2004 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.
|
14985404 |
2004 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
|
12059893 |
2002 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.
|
12123492 |
2002 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients.
|
11928716 |
2002 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.
|
12208234 |
2002 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.
|
11389482 |
2001 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.
|
11525881 |
2001 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.
|
11575529 |
2001 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.
|
9450902 |
1998 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.
|
9066328 |
1997 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.
|
7751854 |
1995 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.
|
7849712 |
1994 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.
|
8012359 |
1994 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.
|
8220423 |
1993 |
|
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
|
1774074 |
1991 |