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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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