NF1 c.4319del ;(p.K1440Sfs*2)

Variant ID: 17-29585505-GA-G

NM_001042492.2(NF1):c.4319del;(p.K1440Sfs*2)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.

Journal Of Translational Medicine
Jaballah-Gabteni, Amira A; Tounsi, Haifa H; Kabbage, Maria M; Hamdi, Yosr Y; Elouej, Sahar S; Ben Ayed, Ines I; Medhioub, Mouna M; Mahmoudi, Moufida M; Dallali, Hamza H; Yaiche, Hamza H; Ben Jemii, Nadia N; Maaloul, Afifa A; Mezghani, Najla N; Abdelhak, Sonia S; Hamzaoui, Lamine L; Azzouz, Mousaddak M; Boubaker, Samir S
Publication Date: 2019-06-27

Variant appearance in text: NF1: 4319delA
PubMed Link: 31248416
Variant Present in the following documents:
  • Main text
  • 12967_2019_Article_1961.pdf
View BVdb publication page