RYR2 c.13564-41A>G

Variant ID: 1-237955364-A-G

NM_001035.2(RYR2):c.13564-41A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs114289907
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015

Variant appearance in text: RYR2: 13564-41A>G; rs114289907
PubMed Link: 26332594
Variant Present in the following documents:
  • pone.0135193.s002.xls, sheet 1
View BVdb publication page