Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.T348S
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PTEN

NM_000314.8:p.T348S

Associated Papers

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Post KL et al.

Nature Communications, 2020

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.

Kun-Rodrigues C et al.

Human Molecular Genetics, 2015

26362251 (PubMed )
Supplement: supp_ddv376_ddv376supp_tables.xlsx › Supp._Table_S3
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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."