Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K750_S751Splc
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ATM

NM_000051.4:p.K750_S751Splc

Associated Papers

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1

Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.

Davis MY et al.

Journal of the Neurological Sciences, 2013

The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

Broeks A et al.

Breast Cancer Research and Treatment, 2008

ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

Mitui M et al.

Annals of Human Genetics, 2005

ATM-heterozygous germline mutations contribute to breast cancer-susceptibility.

Broeks A et al.

American Journal of Human Genetics, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."