Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.A1694S
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ATM

NM_000051.4:p.A1694S

Associated Papers

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.

Canson D et al.

Human Mutation, 2020

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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."