STXBP4 c.1548-6436A>T

Variant ID: 17-53230722-A-T

NM_178509.5(STXBP4):c.1548-6436A>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: rs244293
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Integrating genome-wide association and eQTLs studies identifies the genes associated with age at menarche and age at natural menopause.

Plos One
Wang, Gang G; Lv, Jian J; Qiu, Xiaoxin X; An, Yujun Y
Publication Date: 2019

Variant appearance in text: rs244293
PubMed Link: 31206546
Variant Present in the following documents:
  • Main text
  • pone.0213953.pdf
View BVdb publication page



Age at menarche and lung function: a Mendelian randomization study.

European Journal Of Epidemiology
Gill, Dipender D; Sheehan, Nuala A NA; Wielscher, Matthias M; Shrine, Nick N; Amaral, Andre F S AFS; Thompson, John R JR; Granell, Raquel R; Leynaert, Bénédicte B; Real, Francisco Gómez FG; Hall, Ian P IP; Tobin, Martin D MD; Auvinen, Juha J; Ring, Susan M SM; Jarvelin, Marjo-Riitta MR; Wain, Louise V LV; Henderson, John J; Jarvis, Deborah D; Minelli, Cosetta C
Publication Date: 2017-08

Variant appearance in text: rs244293
PubMed Link: 28624884
Variant Present in the following documents:
  • 10654_2017_272_MOESM2_ESM.pdf
View BVdb publication page