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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
- Source :
- Acuna-Hidalgo , R , Deriziotis , P , Steehouwer , M , Gilissen , C , Graham , SA , van Dam , S , Hoover-Fong , J , Telegrafi , AB , Destree , A , Smigiel , R , Lambie , LA , Kayserili , H , Altunoglu , U , Lapi , E , Uzielli , ML , Aracena , M , Nur , BG , Mihci , E , Moreira , LMA , Ferreira , VB , Horovitz , D D G , da Rocha , KM , Jezela-Stanek , A , Brooks , A , Reutter , H , Cohen , JS , Fatemi , A , Smitka , M , Grebe , TA , Di Donato , N , Deshpande , C , Vandersteen , A , Lourenco , CM , Dufke , A , Rossier , E , Andre , G , Baumer , A , Spencer , C , McGaughran , J , Franke , L , Veltman , JA , de Vries , BBA , Schinzel , A , Fisher , SE , Hoischen , A & van Bon , BW 2017 , ' Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies ' , PLoS Genetics (online) , vol. 13 , no. 3 , e1006683 .
- Publication Year :
- 2017
Details
- Database :
- OAIster
- Journal :
- Acuna-Hidalgo , R , Deriziotis , P , Steehouwer , M , Gilissen , C , Graham , SA , van Dam , S , Hoover-Fong , J , Telegrafi , AB , Destree , A , Smigiel , R , Lambie , LA , Kayserili , H , Altunoglu , U , Lapi , E , Uzielli , ML , Aracena , M , Nur , BG , Mihci , E , Moreira , LMA , Ferreira , VB , Horovitz , D D G , da Rocha , KM , Jezela-Stanek , A , Brooks , A , Reutter , H , Cohen , JS , Fatemi , A , Smitka , M , Grebe , TA , Di Donato , N , Deshpande , C , Vandersteen , A , Lourenco , CM , Dufke , A , Rossier , E , Andre , G , Baumer , A , Spencer , C , McGaughran , J , Franke , L , Veltman , JA , de Vries , BBA , Schinzel , A , Fisher , SE , Hoischen , A & van Bon , BW 2017 , ' Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies ' , PLoS Genetics (online) , vol. 13 , no. 3 , e1006683 .
- Notes :
- application/pdf, und
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1313620869
- Document Type :
- Electronic Resource