KEGG   VARIANT: 5333v1
Entry
5333v1                      Variant                                
Name
PLCD1 mutation
Type
Loss of function
Gene
PLCD1  phospholipase C delta 1 [KO:K05857]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602142
Network
nt06528  Calcium signaling
Disease
H01307  Nonsyndromic congenital nail disorder
Reference
PMID:9588182
  Authors
Shimohama S, Kamiya S, Fujii M, Ogawa T, Kanamori M, Kawamata J, Imura T, Taniguchi T, Yagisawa H
  Title
Mutation in the pleckstrin homology domain of the human phospholipase C-delta 1 gene is associated with loss of function.
  Journal
Biochem Biophys Res Commun 245:722-8 (1998)
DOI:10.1006/bbrc.1998.8307
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