Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.P1922fs
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ATM

NM_000051.4:p.P1922fs

Associated Papers

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Schon K et al.

Annals of Neurology, 2019

30549301 (PubMed )
Supplement: ANA-85-170-s001.pdf

Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.

van Os NJH et al.

Neurology, 2019

Ataxia telangiectasia: more variation at clinical and cellular levels.

Taylor AM et al.

Clinical Genetics, 2015

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

Reiman A et al.

British Journal of Cancer, 2011

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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."