KEGG   VARIANT: 345643v1
Entry
345643v1                      Variant                              
Name
MCIDAS mutation
Type
Loss of function
Gene
MCIDAS  multiciliate differentiation and DNA synthesis associated cell cycle protein [KO:K26119]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 614086
Network
nt06509  DNA replication
Disease
H00564  Primary ciliary dyskinesia
Reference
  Authors
Boon M, Wallmeier J, Ma L, Loges NT, Jaspers M, Olbrich H, Dougherty GW, Raidt J, Werner C, Amirav I, Hevroni A, Abitbul R, Avital A, Soferman R, Wessels M, O'Callaghan C, Chung EM, Rutman A, Hirst RA, Moya E, Mitchison HM, Van Daele S, De Boeck K, Jorissen M, Kintner C, Cuppens H, Omran H
  Title
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.
  Journal
Nat Commun 5:4418 (2014)
DOI:10.1038/ncomms5418
LinkDB

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