rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2.
|
23278621 |
2013 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2.
|
23855588 |
2013 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A large mutational study in pachyonychia congenita.
|
21326300 |
2011 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex.
|
19470054 |
2009 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb.
|
18547302 |
2008 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
|
17719747 |
2007 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity.
|
16620218 |
2006 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
|
16625196 |
2006 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2.
|
15795125 |
2005 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The genetic basis of pachyonychia congenita.
|
16250206 |
2005 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.
|
15102078 |
2004 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.
|
11874497 |
2002 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel keratin 17 mutations in pachyonychia congenita type 2.
|
11348474 |
2001 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.
|
11886499 |
2001 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.
|
10571744 |
1999 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
|
9767294 |
1998 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.
|
9008238 |
1997 |
rs28933088
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
|
7539673 |
1995 |
rs28933088
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|