Varaico: Literature-Extracted Genetic Variants

Gene:PPARA
Variant:p.C278C
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PPARA

NM_005036.6:p.C278C

Associated Papers

Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation.

Teresi RE et al.

American Journal of Human Genetics, 2007

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

Zhou XP et al.

American Journal of Human Genetics, 2003

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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."