ECE1 c.493+6075G>A

Variant ID: 1-21593117-C-T

NM_001397.2(ECE1):c.493+6075G>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs212540
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Identification of novel alleles associated with insulin resistance in childhood obesity using pooled-DNA genome-wide association study approach.

International Journal Of Obesity (2005)
Kotnik, P P; Knapič, E E; Kokošar, J J; Kovač, J J; Jerala, R R; Battelino, T T; Horvat, S S
Publication Date: 2018-04

Variant appearance in text: rs212540
PubMed Link: 29188820
Variant Present in the following documents:
  • Main text
  • ijo2017293a.pdf
View BVdb publication page