PDZRN4 c.843+133440C>T

Variant ID: 12-41721430-C-T

NM_001164595.1(PDZRN4):c.843+133440C>T

This variant was identified in 3 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: rs1880887
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
Panagiotou, Orestis A OA; Evangelou, Evangelos E; Ioannidis, John P A JP
Publication Date: 2010-10-15

Variant appearance in text: rs1880887
PubMed Link: 20876667
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study identifies protein quantitative trait loci (pQTLs).

Plos Genetics
Melzer, David D; Perry, John R B JR; Hernandez, Dena D; Corsi, Anna-Maria AM; Stevens, Kara K; Rafferty, Ian I; Lauretani, Fulvio F; Murray, Anna A; Gibbs, J Raphael JR; Paolisso, Giuseppe G; Rafiq, Sajjad S; Simon-Sanchez, Javier J; Lango, Hana H; Scholz, Sonja S; Weedon, Michael N MN; Arepalli, Sampath S; Rice, Neil N; Washecka, Nicole N; Hurst, Alison A; Britton, Angela A; Henley, William W; van de Leemput, Joyce J; Li, Rongling R; Newman, Anne B AB; Tranah, Greg G; Harris, Tamara T; Panicker, Vijay V; Dayan, Colin C; Bennett, Amanda A; McCarthy, Mark I MI; Ruokonen, Aimo A; Jarvelin, Marjo-Riitta MR; Guralnik, Jack J; Bandinelli, Stefania S; Frayling, Timothy M TM; Singleton, Andrew A; Ferrucci, Luigi L
Publication Date: 2008-05-09

Variant appearance in text: rs1880887
PubMed Link: 18464913
Variant Present in the following documents:
  • Main text
  • pgen.1000072.pdf
View BVdb publication page