KEGG   VARIANT: 51626v1
Entry
51626v1                      Variant                               
Name
DYNC2LI1 mutation
Type
Loss of function
Gene
DYNC2LI1  dynein cytoplasmic 2 light intermediate chain 1 [KO:K10417]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 617083
Network
nt06515  Regulation of kinetochore-microtubule interactions
Disease
H02157  Short-rib thoracic dysplasia
Reference
PMID:26077881
  Authors
Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS, Nelson SF, Cohn DH, Vallee RB, Krakow D
  Title
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
  Journal
Nat Commun 6:7092 (2015)
DOI:10.1038/ncomms8092
LinkDB

DBGET integrated database retrieval system