NF1 c.480dup ;(p.L161Vfs*13)

Variant ID: 17-29496907-A-AG

NM_001042492.2(NF1):c.480dup;(p.L161Vfs*13)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.

Molecular Therapy. Nucleic Acids
Leier, André A; Moore, Marc M; Liu, Hui H; Daniel, Michael M; Hyde, Alexis M AM; Messiaen, Ludwine L; Korf, Bruce R BR; Selvakumaran, Jamuna J; Ciszewski, Lukasz L; Lambert, Laura L; Foote, Jeremy J; Wallace, Margaret R MR; Kesterson, Robert A RA; Dickson, George G; Popplewell, Linda L; Wallis, Deeann D
Publication Date: 2022-06-14

Variant appearance in text: NF1: Leu161fs
PubMed Link: 35433111
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



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

Genes
Bianchessi, Donatella D; Ibba, Maria Cristina MC; Saletti, Veronica V; Blasa, Stefania S; Langella, Tiziana T; Paterra, Rosina R; Cagnoli, Giulia Anna GA; Melloni, Giulia G; Scuvera, Giulietta G; Natacci, Federica F; Cesaretti, Claudia C; Finocchiaro, Gaetano G; Eoli, Marica M
Publication Date: 2020-06-19

Variant appearance in text: NF1: Leu161fs
PubMed Link: 32575496
Variant Present in the following documents:
  • Main text
  • genes-11-00671.pdf
View BVdb publication page