KEGG VARIANT: 63982v1

VARIANT: 63982v1

Entry

63982v1                      Variant

Name

ANO3 mutation

Type

Loss of function

Gene

ANO3 anoctamin 3 [KO:K19498]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 610110

Network

nt06535 Efferocytosis

Disease

H00831

Primary dystonia

Reference

PMID:23200863

Authors

Charlesworth G, Plagnol V, Holmstrom KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW

Title

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.

Journal

Am J Hum Genet 91:1041-50 (2012)
DOI:10.1016/j.ajhg.2012.10.024

LinkDB

DBGET integrated database retrieval system