TG c.1237_1295del ;(p.K413Vfs*52)

Variant ID: 8-133898854-CAAGGAGCTCTTTGTGGACTCTGGGCTTCTCCGCCCAATGGTGGAGGGACAGAGCCAACA-C

NM_003235.4(TG):c.1237_1295del;(p.K413Vfs*52)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 1237_1344del
PubMed Link: 33258201
Variant Present in the following documents:
  • Main text
  • JCLA-35-e23672.pdf
View BVdb publication page