SI c.4681G>A ;(p.A1561T)

Variant ID: 3-164714334-C-T

NM_001041.3(SI):c.4681G>A;(p.A1561T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Proceedings of the 27th European Paediatric Rheumatology Congress (PReS 2021) : Virtual. 19-21 September 2021.

Pediatric Rheumatology Online Journal
Publication Date: 2021-11-08

Variant appearance in text: SI: 4681G>A
PubMed Link: 34749725
Variant Present in the following documents:
  • Main text
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: SI: A1561T
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Validated Reference Panel from Renewable Source of Genomic DNA Available for Standardization of Blood Group Genotyping.

The Journal Of Molecular Diagnostics : Jmd
Volkova, Evgeniya E; Sippert, Emilia E; Liu, Meihong M; Mercado, Teresita T; Denomme, Gregory A GA; Illoh, Orieji O; Liu, Zhugong Z; Rios, Maria M; ,
Publication Date: 2019-05

Variant appearance in text: SI: 4681G>A
PubMed Link: 30872185
Variant Present in the following documents:
  • Main text
View BVdb publication page