Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.K164_G165Splc
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PTEN

NM_000314.8:p.K164_G165Splc

Associated Papers

Artificial intelligence-driven microsatellite instability profiling reveals distinctive genetic features in patients with lung cancer.

Thomas QD et al.

Cancer, 2025

40297960 (PubMed )
Supplement: CNCR-131-e35882-s001.xlsx › Sup_Table_4

Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.

Nagy P et al.

International Journal of Molecular Sciences, 2024

Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.

MacFarland SP et al.

American Journal of Medical Genetics. Part A, 2024

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Molecular Evidence for Epithelial Origin of Mixed Ovarian Epithelial-Germ Cell Neoplasms: Report of 2 Cases and Review of Literature.

Hall KC et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2023

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

Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Huang F et al.

Scientific Reports, 2022

35688842 (PubMed )
Supplement: 41598_2022_13391_MOESM5_ESM.xlsx › NGS_data

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF

Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.

Inagaki-Kawata Y et al.

Communications Biology, 2020

33067557 (PubMed )
Supplement: 42003_2020_1301_MOESM1_ESM.pdf

High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Cho SY et al.

Experimental & Molecular Medicine, 2017

28408749 (PubMed )
Supplement: emm20179x1.xlsx › Table_S3

Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas.

Abou-El-Ardat K et al.

Neuro-oncology, 2017

28201779 (PubMed )
Supplement: now231_suppl_Table_S4.xls › Tabelle1

Cytogenetic and molecular genetic analyses of giant cell glioblastoma multiforme reveal distinct profiles in giant cell and non-giant cell subpopulations.

Martinez R et al.

Cancer Genetics and Cytogenetics, 2007

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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."