KEGG   VARIANT: 63910v1
Entry
63910v1                      Variant                               
Name
SLC17A9 mutation
Type
Loss of function
Gene
SLC17A9  solute carrier family 17 member 9 [KO:K12303]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612107
Network
nt06544  Neuroactive ligand signaling
Disease
H01933  Porokeratosis
Reference
  Authors
Cui H, Li L, Wang W, Shen J, Yue Z, Zheng X, Zuo X, Liang B, Gao M, Fan X, Yin X, Shen C, Yang C, Zhang C, Zhang X, Sheng Y, Gao J, Zhu Z, Lin D, Zhang A, Wang Z, Liu S, Sun L, Yang S, Cui Y, Zhang X
  Title
Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis.
  Journal
J Med Genet 51:699-704 (2014)
DOI:10.1136/jmedgenet-2014-102486
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