rs137854451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
|
23463630 |
2013 |
rs137854451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.
|
20803142 |
2011 |
rs137854451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four novel ELANE mutations in patients with congenital neutropenia.
|
21425445 |
2011 |
rs137854451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pegfilgrastim in children with severe congenital neutropenia.
|
19927291 |
2010 |
rs137854451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Digenic mutations in severe congenital neutropenia.
|
20220065 |
2010 |
rs137854451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
|
19036076 |
2009 |
rs137854451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.
|
18946670 |
2009 |
rs137854451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ela2 mutations and clinical manifestations in familial congenital neutropenia.
|
19415009 |
2009 |
rs137854451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.
|
17436313 |
2007 |
rs137854451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
|
14962902 |
2004 |
rs137854451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.
|
12091371 |
2002 |
rs137854451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.
|
11675333 |
2001 |
rs137854451
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
|
11001877 |
2000 |
rs137854451
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|