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ATM c.2144T>G ;(p.L715R)
Variant ID: 11-108126961-T-G
NM_000051.3(
ATM
):c.2144T>G;(p.L715R)
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:
Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.
Biomedicines
Jaudon, Fanny F; Baldassari, Simona S; Musante, Ilaria I; Thalhammer, Agnes A; Zara, Federico F; Cingolani, Lorenzo A LA
Publication Date: 2020-09-05
Variant appearance in text: ATM: 2144T>G
PubMed Link:
32899500
Variant Present in the following documents:
Main text
biomedicines-08-00332.pdf
View BVdb publication page