Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.E453*
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PIK3CA

NM_006218.4:p.E453*

Associated Papers

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Mirzaa G et al.

Jci Insight, 2016

27631024 (PubMed )
Supplement: jciinsight-1-87623-s001.pdf
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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."