TG c.998A>T ;(p.E333V)

Variant ID: 8-133895167-A-T

NM_003235.4(TG):c.998A>T;(p.E333V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Liver transplantation in glycogen storage disease: a single-center experience.

Orphanet Journal Of Rare Diseases
Beyzaei, Zahra Z; Shamsaeefar, Alireza A; Kazemi, Kurosh K; Nikeghbalian, Saman S; Bahador, Ali A; Dehghani, Masoud M; Malekhosseini, Seyed-Ali SA; Geramizadeh, Bita B
Publication Date: 2022-03-21

Variant appearance in text: TG: Glu333Val
PubMed Link: 35313948
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2284.pdf
View BVdb publication page



HDAC2 Facilitates Pancreatic Cancer Metastasis.

Cancer Research
Krauß, Lukas L; Urban, Bettina C BC; Hastreiter, Sieglinde S; Schneider, Carolin C; Wenzel, Patrick P; Hassan, Zonera Z; Wirth, Matthias M; Lankes, Katharina K; Terrasi, Andrea A; Klement, Christine C; Cernilogar, Filippo M FM; Öllinger, Rupert R; de Andrade Krätzig, Niklas N; Engleitner, Thomas T; Schmid, Roland M RM; Steiger, Katja K; Rad, Roland R; Krämer, Oliver H OH; Reichert, Maximilian M; Schotta, Gunnar G; Saur, Dieter D; Schneider, Günter G
Publication Date: 2022-02-15

Variant appearance in text: TG: 998A>T
PubMed Link: 34903606
Variant Present in the following documents:
  • can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 2
View BVdb publication page



Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases
Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U
Publication Date: 2020-11-18

Variant appearance in text: TG: 998A>T
PubMed Link: 33208168
Variant Present in the following documents:
  • 13023_2020_1608_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: TG: 998A>T
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page