Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.L182delFs
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PTEN

NM_000314.8:p.L182delFs

Associated Papers

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN

Evolution of intra-tumoral heterogeneity across different pathological stages in papillary thyroid carcinoma.

Affinito O et al.

Cancer Cell International, 2022

35996174 (PubMed )
Supplement: 12935_2022_2680_MOESM5_ESM.xlsx › Stage2

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

Yeung KS et al.

Molecular Autism, 2017

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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."