TG c.1568dup ;(p.V524Cfs*13)

Variant ID: 8-133899184-T-TC

NM_003235.4(TG):c.1568dup;(p.V524Cfs*13)

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: 1568dupC
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Human Genome Variation
Altaraihi, M M; Wadt, K K; Ek, J J; Gerdes, A M AM; Ostergaard, E E
Publication Date: 2019

Variant appearance in text: TG: 1568dupC
PubMed Link: 30820324
Variant Present in the following documents:
  • 41439_2019_41_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.

Cell
Atanur, Santosh S SS; Diaz, Ana Garcia AG; Maratou, Klio K; Sarkis, Allison A; Rotival, Maxime M; Game, Laurence L; Tschannen, Michael R MR; Kaisaki, Pamela J PJ; Otto, Georg W GW; Ma, Man Chun John MC; Keane, Thomas M TM; Hummel, Oliver O; Saar, Kathrin K; Chen, Wei W; Guryev, Victor V; Gopalakrishnan, Kathirvel K; Garrett, Michael R MR; Joe, Bina B; Citterio, Lorena L; Bianchi, Giuseppe G; McBride, Martin M; Dominiczak, Anna A; Adams, David J DJ; Serikawa, Tadao T; Flicek, Paul P; Cuppen, Edwin E; Hubner, Norbert N; Petretto, Enrico E; Gauguier, Dominique D; Kwitek, Anne A; Jacob, Howard H; Aitman, Timothy J TJ
Publication Date: 2013-08-01

Variant appearance in text: TG: 1568_1569insC
PubMed Link: 23890820
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page