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TG c.148_150delinsGAG ;(p.P50E)
Variant ID: 8-133880440-CCC-GAG
NM_003235.4(
TG
):c.148_150delinsGAG;(p.P50E)
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:
Diagnostic Value and Effectiveness of an Artificial Neural Network in Biliary Atresia.
Frontiers In Pediatrics
Liu, Jia J; Dai, ShuYang S; Chen, Gong G; Sun, Song S; Jiang, JingYing J; Zheng, Shan S; Zheng, YiJie Y; Dong, Rui R
Publication Date: 2020
Variant appearance in text: TG: P50E
PubMed Link:
32903817
Variant Present in the following documents:
View BVdb publication page
Clathrin binding by the adaptor Ent5 promotes late stages of clathrin coat maturation.
Molecular Biology Of The Cell
Hung, Chao-Wei CW; Duncan, Mara C MC
Publication Date: 2016-04-01
Variant appearance in text: TGN: P50E
PubMed Link:
26842894
Variant Present in the following documents:
Main text
1143.pdf
View BVdb publication page