Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
|
27577878 |
2017 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome.
|
24750412 |
2015 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.
|
25492228 |
2015 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.
|
25391451 |
2014 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.
|
23018568 |
2013 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
G6PC3 mutations cause non-syndromic severe congenital neutropenia.
|
23298686 |
2013 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.
|
23018568 |
2013 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.
|
24105461 |
2013 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
|
23758768 |
2013 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
|
22050868 |
2012 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.
|
23171239 |
2012 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia.
|
22469094 |
2012 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
|
22050868 |
2012 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia.
|
22469094 |
2012 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
|
20717171 |
2011 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
|
20717171 |
2011 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Digenic mutations in severe congenital neutropenia.
|
20220065 |
2010 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in the G6PC3 gene cause Dursun syndrome.
|
20799326 |
2010 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the G6PC3 gene cause Dursun syndrome.
|
20799326 |
2010 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.
|
20616219 |
2010 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.
|
20616219 |
2010 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A syndrome with congenital neutropenia and mutations in G6PC3.
|
19118303 |
2009 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
|
19775295 |
2009 |
Neutropenia, Severe Congenital, Autosomal Recessive 4
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
A syndrome with congenital neutropenia and mutations in G6PC3.
|
19118303 |
2009 |