Bibliome.ai browser hg19
Search
About
Stats
FAQ
ATM c.137A>G ;(p.H46R)
Variant ID: 11-108098567-A-G
NM_000051.3(
ATM
):c.137A>G;(p.H46R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.
Journal Of Human Genetics
Suzuki, Naoki N; Nishiyama, Ayumi A; Warita, Hitoshi H; Aoki, Masashi M
Publication Date: 2022-06-13
Variant appearance in text: ATM: H46R
PubMed Link:
35691950
Variant Present in the following documents:
Main text
10038_2022_Article_1055.pdf
View BVdb publication page
DNA damage as a mechanism of neurodegeneration in ALS and a contributor to astrocyte toxicity.
Cellular And Molecular Life Sciences : Cmls
Kok, Jannigje Rachel JR; Palminha, Nelma M NM; Dos Santos Souza, Cleide C; El-Khamisy, Sherif F SF; Ferraiuolo, Laura L
Publication Date: 2021-08
Variant appearance in text: ATM: H46R
PubMed Link:
34173837
Variant Present in the following documents:
Main text
View BVdb publication page
Redox Mechanisms in Neurodegeneration: From Disease Outcomes to Therapeutic Opportunities.
Antioxidants & Redox Signaling
Sbodio, Juan I JI; Snyder, Solomon H SH; Paul, Bindu D BD
Publication Date: 2019-04-10
Variant appearance in text: ATM: H46R
PubMed Link:
29634350
Variant Present in the following documents:
Main text
View BVdb publication page