Condition: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE
rs138156467
in
CSF3R
gene and
NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE
PMID 26324699
2015 GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations.