Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2C
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ATM

NM_000051.4:p.S2C

Associated Papers

Low U1 snRNP dependence at the NF1 exon 29 donor splice site.

Raponi M et al.

The Febs Journal, 2009

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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."