TG c.2447del ;(p.N816Tfs*32)

Variant ID: 8-133900496-GA-G

NM_003235.4(TG):c.2447del;(p.N816Tfs*32)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: TG: 2446delA
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.

Journal Of Clinical Laboratory Analysis
Rodríguez Gutiérrez, Perla Graciela PG; González García, Juan Ramón JR; Castillo De León, Yolanda Alicia YA; Zárate Guerrero, Juan Rafael JR; Magaña Torres, María Teresa MT
Publication Date: 2021-03

Variant appearance in text: TG: 2445del
PubMed Link: 33258201
Variant Present in the following documents:
  • Main text
View BVdb publication page