Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.Y46*
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PTEN

NM_000314.8:p.Y46*

Associated Papers

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies.

Jin P et al.

Bmc Pregnancy and Childbirth, 2024

Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Dai J et al.

Journal for Immunotherapy of Cancer, 2023

36593066 (PubMed )
Supplement: jitc-2022-005937supp007.xls › Supplemental_Table_3

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

Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Georgoulias G et al.

Frontiers in Immunology, 2022

36389735 (PubMed )
Supplement: Table_7.xlsx › PTEN

Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia.

Chang YH et al.

Scientific Reports, 2021

33436855 (PubMed )
Supplement: 41598_2020_80613_MOESM1_ESM.pdf

Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.

Yotsumoto Y et al.

Molecular and Clinical Oncology, 2020

Analytic validation and real-time clinical application of an amplicon-based targeted gene panel for advanced cancer.

Wing MR et al.

Oncotarget, 2017

29100271 (PubMed )
Supplement: oncotarget-08-75822-s008.xlsx › S7._167_patients

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis.

Pistorius S et al.

Hereditary Cancer in Clinical Practice, 2016

Revealing the Molecular Portrait of Triple Negative Breast Tumors in an Understudied Population through Omics Analysis of Formalin-Fixed and Paraffin-Embedded Tissues.

Vaca-Paniagua F et al.

Plos One, 2015

25961742 (PubMed )
Supplement: pone.0126762.s015.xlsx › S11_Table

Synthetic lethal targeting of PTEN mutant cells with PARP inhibitors.

Mendes-Pereira AM et al.

Embo Molecular Medicine, 2009

20049735 (PubMed )
Supplement: emmm0001-0315-SD1.pdf
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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."