KEGG   VARIANT: 9493v1
Entry
9493v1                      Variant                                
Name
KIF23 mutation
Type
Loss of function
Gene
KIF23  kinesin-like protein KIF23 isoform 1 [KO:K17387]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605064
Network
nt06541  Cytoskeleton in neurons
Disease
H00917  Congenital dyserythropoietic anemia
Reference
PMID:33159567
  Authors
Mendez M, Moreno-Carralero MI, Peri VL, Camacho-Galan R, Bosch-Benitez JM, Huerta-Aragones J, Sanchez-Calero-Guilarte J, Moreno-Risco MB, Alonso-Dominguez JM, Moran-Jimenez MJ
  Title
Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.
  Journal
Ann Hematol 100:353-364 (2021)
DOI:10.1007/s00277-020-04319-5
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