Varaico: Literature-Extracted Genetic Variants

Gene:TNIP1
Variant:p.E542K
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TNIP1

NM_006058.5:p.E542K

Associated Papers

Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.

Piacitelli AM et al.

American Journal of Medical Genetics. Part A, 2018

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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."