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ATM c.2200G>C ;(p.V734L)
Variant ID: 11-108127017-G-C
NM_000051.3(
ATM
):c.2200G>C;(p.V734L)
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:
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
Neuroscience Bulletin
Xu, Xing-Xing XX; Luo, Jian-Hong JH
Publication Date: 2018-06
Variant appearance in text: ATD: 2200G>C
PubMed Link:
29124671
Variant Present in the following documents:
Main text
View BVdb publication page