• Mutation; HGNC; HGNC:173; ACVR2A; Simple; p.Lys437Argfs*5 (c.1310delA); dbSNP=rs764719749; Zygosity=Homozygous (PubMed=12615714).
  
• Mutation; HGNC; HGNC:11773; TGFBR2; Simple; p.Lys128Serfs*35 (c.383delA); ClinVar=VCV000477546; Zygosity=Homozygous (PubMed=12615714).
  

PubMed=1427983; DOI=10.1038/icb.1992.30
Robert H. Whitehead, Hui-Hua Zhang, Ian P. Hayward;
Retention of tissue-specific phenotype in a panel of colon carcinoma cell lines: relationship to clinical correlates.
Immunol. Cell Biol. 70:227-236(1992)

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Evidence of selection for clones having genetic inactivation of the activin A type II receptor (ACVR2) gene in gastrointestinal cancers.
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PubMed=25926053; DOI=10.1038/ncomms8002
Enzo Medico, Mariangela Russo, Gabriele Picco, Carlotta Cancelliere, Emanuele Valtorta, Giorgio Corti, Michela Buscarino, Claudio Isella, Simona Lamba, Barbara Martinoglio, Silvio Veronese ...Show all 19 authors... , Salvatore Siena, Andrea Sartore-Bianchi, Marco Beccuti, Marcella Mottolese, Michael Linnebacher, Francesca Cordero, Federica Di Nicolantonio, Alberto Bardelli; Show fewer authors
The molecular landscape of colorectal cancer cell lines unveils clinically actionable kinase targets.
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