RERE c.831-1172G>A

Variant ID: 1-8569906-C-T

NM_001042681.1(RERE):c.831-1172G>A

This variant was identified in 4 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: rs11121194
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Similarity-driven multi-view embeddings from high-dimensional biomedical data.

Nature Computational Science
Avants, Brian B BB; Tustison, Nicholas J NJ; Stone, James R JR
Publication Date: 2021-02

Variant appearance in text: rs11121194
PubMed Link: 33796865
Variant Present in the following documents:
  • NIHMS1664982-supplement-1.pdf
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs11121194
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.

The New England Journal Of Medicine
Jin, Ying Y; Birlea, Stanca A SA; Fain, Pamela R PR; Gowan, Katherine K; Riccardi, Sheri L SL; Holland, Paulene J PJ; Mailloux, Christina M CM; Sufit, Alexandra J D AJ; Hutton, Saunie M SM; Amadi-Myers, Anita A; Bennett, Dorothy C DC; Wallace, Margaret R MR; McCormack, Wayne T WT; Kemp, E Helen EH; Gawkrodger, David J DJ; Weetman, Anthony P AP; Picardo, Mauro M; Leone, Giovanni G; Taïeb, Alain A; Jouary, Thomas T; Ezzedine, Khaled K; van Geel, Nanny N; Lambert, Jo J; Overbeck, Andreas A; Spritz, Richard A RA
Publication Date: 2010-05-06

Variant appearance in text: rs11121194
PubMed Link: 20410501
Variant Present in the following documents:
  • Main text
View BVdb publication page