KEGG VARIANT: 2733v1

VARIANT: 2733v1

Entry

2733v1                      Variant

Name

GLE1 mutation

Gene

GLE1 GLE1 RNA export mediator [KO:K18723]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 603371

Network

nt06464 Amyotrophic lateral sclerosis

Disease

Amyotrophic lateral sclerosis (ALS)

Reference

Authors

Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L

Title

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

Journal

Nat Genet 40:155-7 (2008)
DOI:10.1038/ng.2007.65

Reference

Authors

Mathis S, Goizet C, Soulages A, Vallat JM, Masson GL

Title

Genetics of amyotrophic lateral sclerosis: A review.

Journal

J Neurol Sci 399:217-226 (2019)
DOI:10.1016/j.jns.2019.02.030

LinkDB

DBGET integrated database retrieval system