Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L1814*
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ATM

NM_000051.4:p.L1814*

Associated Papers

Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.

Toss A et al.

Genes, 2021

In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.

Pozzi E et al.

Scientific Reports, 2020

33214630 (PubMed )
Supplement: 41598_2020_77352_MOESM1_ESM.pdf

Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

Cavalieri S et al.

Annals of Human Genetics, 2008

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