Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q2002_D2003Splc
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ATM

NM_000051.4:p.Q2002_D2003Splc

Associated Papers

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

Breakpoints in the ataxia telangiectasia gene arise at the RGYW somatic hypermutation motif.

Bradshaw PS et al.

Oncogene, 2002

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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."