|
rs121912475
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
|
21623745 |
2011 |
|
rs121912475
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
|
16882168 |
2006 |
|
rs121912475
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.
|
11407988 |
2001 |
|
rs121912475
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
|
9989794 |
1999 |
|
rs121912475
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.
|
9740251 |
1998 |
|
rs121912475
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.
|
7534039 |
1995 |
|
rs121912475
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.
|
7686424 |
1993 |
|
rs57599352
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
|
21623745 |
2011 |
|
rs57599352
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
|
16882168 |
2006 |
|
rs57599352
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.
|
11407988 |
2001 |
|
rs57599352
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
|
9989794 |
1999 |
|
rs57599352
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.
|
9740251 |
1998 |
|
rs57599352
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.
|
7534039 |
1995 |
|
rs57599352
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.
|
7686424 |
1993 |
|
rs58163069
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs59629244
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs61371557
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs147611635
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs57751134
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
|
21623745 |
2011 |
|
rs57751134
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
|
16882168 |
2006 |
|
rs57751134
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.
|
11407988 |
2001 |
|
rs57751134
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
|
9989794 |
1999 |
|
rs57751134
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.
|
9740251 |
1998 |
|
rs57751134
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.
|
7534039 |
1995 |
|
rs57751134
|
|
Epidermolysis Bullosa Simplex Kobner
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.
|
7686424 |
1993 |