Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.V45delFs
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PTEN

NM_000314.8:p.V45delFs

Associated Papers

High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.

Hernandez PV et al.

American Journal of Medical Genetics. Part A, 2023

Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.

Cao Y et al.

Genetics in Medicine Open, 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 analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.

Akahane T et al.

Bmc Medical Genomics, 2020

32652986 (PubMed )
Supplement: 12920_2020_753_MOESM2_ESM.xlsx › Sheet1

Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.

Ten Broek RW et al.

Genes, Chromosomes & Cancer, 2019

Genomic Alterations of Anaplastic Thyroid Carcinoma Detected by Targeted Massive Parallel Sequencing in a BRAF(V600E) Mutation-Prevalent Area.

Jeon MJ et al.

Thyroid : Official Journal of the American Thyroid Association, 2016

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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."