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ATM c.1447_1448delinsTG ;(p.L483C)
Variant ID: 11-108121639-CT-TG
NM_000051.3(
ATM
):c.1447_1448delinsTG;(p.L483C)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
GluA1 signal peptide determines the spatial assembly of heteromeric AMPA receptors.
Proceedings Of The National Academy Of Sciences Of The United States Of America
He, Xue-Yan XY; Li, Yan-Jun YJ; Kalyanaraman, Chakrapani C; Qiu, Li-Li LL; Chen, Chen C; Xiao, Qi Q; Liu, Wen-Xue WX; Zhang, Wei W; Yang, Jian-Jun JJ; Chen, Guiquan G; Jacobson, Matthew P MP; Shi, Yun Stone YS
Publication Date: 2016-09-20
Variant appearance in text: ATD: L483C
PubMed Link:
27601647
Variant Present in the following documents:
Main text
View BVdb publication page