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Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.

Donatella Bianchessi,Maria Cristina Ibba,Veronica Saletti,Stefania Blasa,Tiziana Langella,Rosina Paterra,Giulia Anna Cagnoli,Giulia Melloni,Giulietta Scuvera,Federica Natacci,Claudia Cesaretti,Gaetano Finocchiaro,Marica Eoli

Genes（2020）

引用 7|浏览53
关键词
neurofibromatosis type 1,targeted next generation sequencing (NGS),NF1,SPRED1,LZTR1,NF2genes pathogenic variants,schwannomatosis
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