TG c.954dup ;(p.C319Lfs*42)

Variant ID: 8-133895122-G-GC

NM_003235.4(TG):c.954dup;(p.C319Lfs*42)

This variant was identified in 3 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: 954dupC
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The trypanocidal benzoxaborole AN7973 inhibits trypanosome mRNA processing.

Plos Pathogens
Begolo, Daniela D; Vincent, Isabel M IM; Giordani, Federica F; Pöhner, Ina I; Witty, Michael J MJ; Rowan, Timothy G TG; Bengaly, Zakaria Z; Gillingwater, Kirsten K; Freund, Yvonne Y; Wade, Rebecca C RC; Barrett, Michael P MP; Clayton, Christine C
Publication Date: 2018-09

Variant appearance in text: TG: 954_955insC
PubMed Link: 30252911
Variant Present in the following documents:
  • ppat.1007315.s003.xlsx, sheet 9
View BVdb publication page



Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

Gastroenterology
van Rijn, Jorik M JM; Ardy, Rico Chandra RC; Kuloğlu, Zarife Z; Härter, Bettina B; van Haaften-Visser, Désirée Y DY; van der Doef, Hubert P J HPJ; van Hoesel, Marliek M; Kansu, Aydan A; van Vugt, Anke H M AHM; Thian, Marini M; Kokke, Freddy T M FTM; Krolo, Ana A; Başaran, Meryem Keçeli MK; Kaya, Neslihan Gurcan NG; Aksu, Aysel Ünlüsoy AÜ; Dalgıç, Buket B; Ozcay, Figen F; Baris, Zeren Z; Kain, Renate R; Stigter, Edwin C A ECA; Lichtenbelt, Klaske D KD; Massink, Maarten P G MPG; Duran, Karen J KJ; Verheij, Joke B G M JBGM; Lugtenberg, Dorien D; Nikkels, Peter G J PGJ; Brouwer, Henricus G F HGF; Verkade, Henkjan J HJ; Scheenstra, René R; Spee, Bart B; Nieuwenhuis, Edward E S EES; Coffer, Paul J PJ; Janecke, Andreas R AR; van Haaften, Gijs G; Houwen, Roderick H J RHJ; Müller, Thomas T; Middendorp, Sabine S; Boztug, Kaan K
Publication Date: 2018-07

Variant appearance in text: TG: 953insC
PubMed Link: 29604290
Variant Present in the following documents:
  • Main text
View BVdb publication page