Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E1892Splc
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ATM

NM_000051.4:p.E1892Splc

Associated Papers

Characterization of splice-altering mutations in inherited predisposition to cancer.

Casadei S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutations.

Diederichs S et al.

Embo Molecular Medicine, 2016

26992833 (PubMed )
Supplement: EMMM-8-442-s002.docx
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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."