Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R248insFs
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ATM

NM_000051.4:p.R248insFs

Associated Papers

Nijmegen breakage syndrome (NBS).

Chrzanowska KH et al.

Orphanet Journal of Rare Diseases, 2012

The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome.

Demuth I et al.

Oncogene, 2007

Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers.

Di Masi A et al.

Genetic Testing, 2006

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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."