rs762019955
×
Entrez Id:
92579
Gene Symbol:
G6PC3
G6PC3
Neutropenia, Severe Congenital, Autosomal Recessive 4
0.700
GeneticVariation
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
rs762019955
×
Entrez Id:
92579
Gene Symbol:
G6PC3
G6PC3
Neutropenia, Severe Congenital, Autosomal Recessive 4
0.700
GeneticVariation
UNIPROT
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.
25492228
2015
rs762019955
×
Entrez Id:
92579
Gene Symbol:
G6PC3
G6PC3
Neutropenia, Severe Congenital, Autosomal Recessive 4
0.700
GeneticVariation
UNIPROT
A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.
23018568
2013
rs762019955
×
Entrez Id:
92579
Gene Symbol:
G6PC3
G6PC3
Neutropenia, Severe Congenital, Autosomal Recessive 4
0.700
GeneticVariation
UNIPROT
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.
24105461
2013
rs762019955
×
Entrez Id:
92579
Gene Symbol:
G6PC3
G6PC3
Neutropenia, Severe Congenital, Autosomal Recessive 4
0.700
GeneticVariation
UNIPROT
G6PC3 mutations cause non-syndromic severe congenital neutropenia.
23298686
2013
rs762019955
×
Entrez Id:
92579
Gene Symbol:
G6PC3
G6PC3
Neutropenia, Severe Congenital, Autosomal Recessive 4
0.700
GeneticVariation
UNIPROT
Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia.
22469094
2012
rs762019955
×
Entrez Id:
92579
Gene Symbol:
G6PC3
G6PC3
Neutropenia, Severe Congenital, Autosomal Recessive 4
0.700
GeneticVariation
UNIPROT
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
22050868
2012
rs762019955
×
Entrez Id:
92579
Gene Symbol:
G6PC3
G6PC3
Neutropenia, Severe Congenital, Autosomal Recessive 4
0.700
GeneticVariation
UNIPROT
Digenic mutations in severe congenital neutropenia.
20220065
2010
rs762019955
×
Entrez Id:
92579
Gene Symbol:
G6PC3
G6PC3
Neutropenia, Severe Congenital, Autosomal Recessive 4
0.700
GeneticVariation
UNIPROT
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.
20616219
2010
rs762019955
×
Entrez Id:
92579
Gene Symbol:
G6PC3
G6PC3
Neutropenia, Severe Congenital, Autosomal Recessive 4
0.700
GeneticVariation
UNIPROT
A syndrome with congenital neutropenia and mutations in G6PC3.
19118303
2009