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CALR c.1021G>A ;(p.E341K)
Variant ID: 19-13054411-G-A
NM_004343.3(
CALR
):c.1021G>A;(p.E341K)
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:
Retinal hyperreflective foci in Fabry disease.
Orphanet Journal Of Rare Diseases
Atiskova, Yevgeniya Y; Rassuli, Rahman R; Koehn, Anja Friederike AF; Golsari, Amir A; Wagenfeld, Lars L; du Moulin, Marcel M; Muschol, Nicole N; Dulz, Simon S
Publication Date: 2019-12-26
Variant appearance in text: CRT: E341K
PubMed Link:
31878969
Variant Present in the following documents:
Main text
13023_2019_Article_1267.pdf
View BVdb publication page
Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.
Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; BrĂ¼nner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10
Variant appearance in text: CALR: 1021G>A; E341K
PubMed Link:
29127303
Variant Present in the following documents:
41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page