Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.S113I
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PTEN

NM_000314.8:p.S113I

Associated Papers

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST11-PTEN

Distinguishing between PTEN clinical phenotypes through mutation analysis.

Portelli S et al.

Computational and Structural Biotechnology Journal, 2021

34141133 (PubMed )
Supplement: mmc1.docx

Assessment of epigenetic alterations and in silico analysis of mutation affecting PTEN expression among Indian cervical cancer patients.

Naseem A et al.

Journal of Cellular Biochemistry, 2019

Deep sequencing of KIT, MET, PIK3CA, and PTEN hotspots in papillary thyroid carcinomas with distant metastases.

Gandolfi G et al.

Endocrine-related Cancer, 2014

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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."