KEGG   VARIANT: 22827v1
Entry
22827v1                      Variant                               
Name
PUF60 mutation
Type
Loss of function
Gene
PUF60  poly(U) binding splicing factor 60 [KO:K12838]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604819
Network
nt06547  Spliceosome
Disease
H01800  Verheij syndrome
Reference
PMID:28074499
  Authors
Santos-Simarro F, Vallespin E, Del Pozo A, Ibanez K, Silla JC, Fernandez L, Nevado J, Gonzalez-Pecellin H, Montano VEF, Martin R, Alba Valdivia LI, Garcia-Minaur S, Lapunzina P, Palomares-Bralo M
  Title
Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.
  Journal
Clin Genet 92:350-351 (2017)
DOI:10.1111/cge.12965
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