GC c.872dup ;(p.N293Efs*3)

Variant ID: 4-72622590-T-TG

NM_000583.3(GC):c.872dup;(p.N293Efs*3)

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: GC: 872dupC
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family.

Clinical Medicine Insights. Case Reports
Pace, Nikolai Paul NP; Rizzo, Christopher C; Abela, Alexia A; Gruppetta, Mark M; Fava, Stephen S; Felice, Alex A; Vassallo, Josanne J
Publication Date: 2019

Variant appearance in text: GC: 872dupC
PubMed Link: 30814848
Variant Present in the following documents:
  • Main text
  • 10.1177_1179547619831034.pdf
View BVdb publication page