KEGG   VARIANT: 2066v1
Entry
2066v1                      Variant                                

Name
ERBB4 mutation
Gene
ERBB4  erb-b2 receptor tyrosine kinase 4 [KO:K05085]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600543
Reference
  Authors
Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G, Fifita JA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S
  Title
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
  Journal
Am J Hum Genet 93:900-5 (2013)
DOI:10.1016/j.ajhg.2013.09.008
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