KEGG   VARIANT: 79659v1
Entry
79659v1                      Variant                               
Name
DYNC2H1 mutation
Type
Loss of function
Gene
DYNC2H1  cytoplasmic dynein 2 heavy chain 1 isoform 1 [KO:K10414]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603297
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06541  Cytoskeleton in neurons
Disease
H02157  Short-rib thoracic dysplasia
Reference
PMID:19442771
  Authors
Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V
  Title
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
  Journal
Am J Hum Genet 84:706-11 (2009)
DOI:10.1016/j.ajhg.2009.04.016
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