EGFR c.81_82insGGC ;(p.E27_K28insG)

Variant ID: 7-55087051-A-AGGC

NM_005228.3(EGFR):c.81_82insGGC;(p.E27_K28insG)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.

Human Molecular Genetics
Flex, Elisabetta E; Jaiswal, Mamta M; Pantaleoni, Francesca F; Martinelli, Simone S; Strullu, Marion M; Fansa, Eyad K EK; Caye, Aurélie A; De Luca, Alessandro A; Lepri, Francesca F; Dvorsky, Radovan R; Pannone, Luca L; Paolacci, Stefano S; Zhang, Si-Cai SC; Fodale, Valentina V; Bocchinfuso, Gianfranco G; Rossi, Cesare C; Burkitt-Wright, Emma M M EM; Farrotti, Andrea A; Stellacci, Emilia E; Cecchetti, Serena S; Ferese, Rosangela R; Bottero, Lisabianca L; Castro, Silvana S; Fenneteau, Odile O; Brethon, Benoît B; Sanchez, Massimo M; Roberts, Amy E AE; Yntema, Helger G HG; Van Der Burgt, Ineke I; Cianci, Paola P; Bondeson, Marie-Louise ML; Cristina Digilio, Maria M; Zampino, Giuseppe G; Kerr, Bronwyn B; Aoki, Yoko Y; Loh, Mignon L ML; Palleschi, Antonio A; Di Schiavi, Elia E; Carè, Alessandra A; Selicorni, Angelo A; Dallapiccola, Bruno B; Cirstea, Ion C IC; Stella, Lorenzo L; Zenker, Martin M; Gelb, Bruce D BD; Cavé, Hélène H; Ahmadian, Mohammad R MR; Tartaglia, Marco M
Publication Date: 2014-08-15

Variant appearance in text: EGFR: 81_82insGGC
PubMed Link: 24705357
Variant Present in the following documents:
  • Main text
  • ddu148.pdf
View BVdb publication page