Condition: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
rs587777728
in
JAGN1
gene and
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
PMID 25129144
2014 JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.