• Mutation; HGNC; HGNC:2514; CTNNB1; Simple; p.Ser45Tyr (c.134C>A); ClinVar=VCV000375895; Zygosity=Heterozygous (PubMed=20106868; PubMed=33379206).
  
• Mutation; HGNC; HGNC:12796; WT1; Simple; p.Arg362Ter (c.1084C>T) (p.Arg435Ter, c.1303C>T); ClinVar=VCV000003497; Zygosity=Homozygous (PubMed=20106868; PubMed=24619359; PubMed=33379206).
  

PubMed=20106868; DOI=10.1093/hmg/ddq042
Royer-Pokora B., Busch M.A., Beier M., Duhme C., de Torres C., Mora J., Brandt A., Royer H.-D.
Wilms tumor cells with WT1 mutations have characteristic features of mesenchymal stem cells and express molecular markers of paraxial mesoderm.
Hum. Mol. Genet. 19:1651-1668(2010)

PubMed=24619359; DOI=10.1093/hmg/ddu111; PMCID=PMC4082364
Busch M.A., Schwindt H., Brandt A., Beier M., Gorldt N., Romaniuk P., Toska E., Roberts S., Royer H.-D., Royer-Pokora B.
Classification of a frameshift/extended and a stop mutation in WT1 as gain-of-function mutations that activate cell cycle genes and promote Wilms tumour cell proliferation.
Hum. Mol. Genet. 23:3958-3974(2014)

PubMed=33379206; DOI=10.3390/cancers13010060; PMCID=PMC7801943
Royer-Pokora B., Busch M.A., Tenbusch S., Schmidt M., Beier M., Woods A.D., Thiele H., Mora J.
Comprehensive biology and genetics compendium of Wilms tumor cell lines with different WT1 mutations.
Cancers (Basel) 13:60.1-60.21(2021)