KEGG   VARIANT: 114034v1
Entry
114034v1                      Variant                              
Name
TOE1 mutation
Type
Loss of function
Gene
TOE1  target of EGR1, exonuclease [KO:K13202]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613931
Network
nt06547  Spliceosome
Disease
H00897  Pontocerebellar hypoplasia
Reference
  Authors
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Caglayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG
  Title
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
  Journal
Nat Genet 49:457-464 (2017)
DOI:10.1038/ng.3762
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