CALR c.22C>T ;(p.L8=)

Variant ID: 19-13049515-C-T

NM_004343.3(CALR):c.22C>T;(p.L8=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.

Plos One
Xin, Wei W; Xiao, Xueshan X; Li, Shiqiang S; Jia, Xiaoyun X; Guo, Xiangming X; Zhang, Qingjiong Q
Publication Date: 2015

Variant appearance in text: SSA: 22C>T
PubMed Link: 26161775
Variant Present in the following documents:
  • Main text
  • pone.0132635.pdf
View BVdb publication page



Phenotypic and functional characterization of human mammary stem/progenitor cells in long term culture.

Plos One
Dey, Devaveena D; Saxena, Meera M; Paranjape, Anurag N AN; Krishnan, Visalakshi V; Giraddi, Rajashekhar R; Kumar, M Vijaya MV; Mukherjee, Geetashree G; Rangarajan, Annapoorni A
Publication Date: 2009

Variant appearance in text: CRT: l8=
PubMed Link: 19390630
Variant Present in the following documents:
View BVdb publication page