KEGG   VARIANT: 10755v1
Entry
10755v1                      Variant                               
Name
GIPC1 mutation
Type
Loss of function
Gene
GIPC1  GIPC PDZ domain containing family member 1 [KO:K20056]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation
OmimVar: 605072
Network
nt06541  Cytoskeleton in neurons
Disease
H02513  Oculopharyngodistal myopathy
Reference
PMID:32413282
  Authors
Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z
  Title
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
  Journal
Am J Hum Genet 106:793-804 (2020)
DOI:10.1016/j.ajhg.2020.04.011
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