Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.M198T
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PTEN

NM_000314.8:p.M198T

Associated Papers

Local delivery of hrBMP4 as an anticancer therapy in patients with recurrent glioblastoma: a first-in-human phase 1 dose escalation trial.

Bos EM et al.

Molecular Cancer, 2023

37563568 (PubMed )
Supplement: 12943_2023_1835_MOESM2_ESM.pdf

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

Leman R et al.

Human Mutation, 2022

36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1

Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.

Serebriiskii IG et al.

Nature Communications, 2022

35338148 (PubMed )
Supplement: 41467_2022_29227_MOESM6_ESM.xlsx › Supplemenraty_Data_3

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.

Rowlands C et al.

Scientific Reports, 2021

34663891 (PubMed )
Supplement: 41598_2021_99747_MOESM2_ESM.xlsx › Table-S1-modified

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Wai HA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32123317 (PubMed )
Supplement: 41436_2020_766_MOESM3_ESM.xlsx › Variant_summary
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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."