NF1 c.5154dup ;(p.I1719Hfs*4)

Variant ID: 17-29653155-A-AC

NM_001042492.2(NF1):c.5154dup;(p.I1719Hfs*4)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


One NF1 Mutation may Conceal Another.

Genes
Pacot, Laurence L; Burin des Roziers, Cyril C; Laurendeau, Ingrid I; Briand-Suleau, Audrey A; Coustier, Audrey A; Mayard, Théodora T; Tlemsani, Camille C; Faivre, Laurence L; Thomas, Quentin Q; Rodriguez, Diana D; Blesson, Sophie S; Dollfus, Hélène H; Muller, Yvon-Gauthier YG; Parfait, Béatrice B; Vidaud, Michel M; Gilbert-Dussardier, Brigitte B; Yardin, Catherine C; Dauriat, Benjamin B; Derancourt, Christian C; Vidaud, Dominique D; Pasmant, Eric E
Publication Date: 2019-08-22

Variant appearance in text: NF1: 5154dup
PubMed Link: 31443423
Variant Present in the following documents:
  • Main text
  • genes-10-00633.pdf
View BVdb publication page