Condition: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
rs587777100
in
C15orf41
gene and
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
PMID 29885034
2018 Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene.
PMID 23716552
2013 Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.
PMID 31191338
2019 Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.