NF1 c.287G>A ;(p.G96E)

Variant ID: 17-29486110-G-A

NM_001042492.2(NF1):c.287G>A;(p.G96E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: Gly96Glu
PubMed Link: 32575496
Variant Present in the following documents:
  • Main text
  • genes-11-00671.pdf
View BVdb publication page