• 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
Brigitte Royer-Pokora, Maike Anna Busch, Manfred Beier, Constanze Duhme, Carmen de Torres, Jaume Mora, Artur Brandt, Hans-Dieter Royer;
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
Maike Anna Busch, Heinrich Schwindt, Artur Brandt, Manfred Beier, Nicole Gorldt, Paul Romaniuk, Eneda Toska, Stefan Roberts, Hans-Dieter Royer, Brigitte Royer-Pokora;
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
Brigitte Royer-Pokora, Maike Anna Busch, Sarah Tenbusch, Mathias Schmidt, Manfred Beier, Andrew D. Woods, Holger Thiele, Jaume Mora;
Comprehensive biology and genetics compendium of Wilms tumor cell lines with different WT1 mutations.
Cancers (Basel) 13:60.1-60.21(2021)