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.




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