rs121912292
|
Entrez Id: |
1736 |
Gene Symbol: |
DKC1 |
DKC1
|
X-Linked Dyskeratosis Congenita
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.
|
15304085 |
2004 |
rs121912292
|
Entrez Id: |
1736 |
Gene Symbol: |
DKC1 |
DKC1
|
X-Linked Dyskeratosis Congenita
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121912292
|
Entrez Id: |
1736 |
Gene Symbol: |
DKC1 |
DKC1
|
X-Linked Dyskeratosis Congenita
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.
|
19734544 |
2009 |
rs121912292
|
Entrez Id: |
1736 |
Gene Symbol: |
DKC1 |
DKC1
|
X-Linked Dyskeratosis Congenita
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation in DKC1 in dyskeratosis congenita.
|
18802941 |
2009 |
rs121912292
|
Entrez Id: |
1736 |
Gene Symbol: |
DKC1 |
DKC1
|
X-Linked Dyskeratosis Congenita
|
|
0.800 |
GeneticVariation |
UNIPROT |
X-linked dyskeratosis congenita in Malaysia.
|
17417794 |
2008 |
rs121912292
|
Entrez Id: |
1736 |
Gene Symbol: |
DKC1 |
DKC1
|
X-Linked Dyskeratosis Congenita
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: dyskeratosis congenita.
|
21610750 |
2011 |
rs121912292
|
Entrez Id: |
1736 |
Gene Symbol: |
DKC1 |
DKC1
|
X-Linked Dyskeratosis Congenita
|
|
0.800 |
GeneticVariation |
UNIPROT |
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.
|
21602826 |
2011 |
rs121912292
|
Entrez Id: |
1736 |
Gene Symbol: |
DKC1 |
DKC1
|
X-Linked Dyskeratosis Congenita
|
|
0.800 |
GeneticVariation |
UNIPROT |
Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.
|
25219674 |
2014 |
rs121912292
|
Entrez Id: |
1736 |
Gene Symbol: |
DKC1 |
DKC1
|
X-Linked Dyskeratosis Congenita
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita.
|
19879169 |
2010 |
rs121912292
|
Entrez Id: |
1736 |
Gene Symbol: |
DKC1 |
DKC1
|
X-Linked Dyskeratosis Congenita
|
|
0.800 |
GeneticVariation |
UNIPROT |
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
|
9590285 |
1998 |
rs121912292
|
Entrez Id: |
1736 |
Gene Symbol: |
DKC1 |
DKC1
|
X-Linked Dyskeratosis Congenita
|
|
0.800 |
GeneticVariation |
UNIPROT |
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
|
10364516 |
1999 |