Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.N212Splc
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PTEN

NM_000314.8:p.N212Splc

Associated Papers

Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Cotto KC et al.

Nature Communications, 2023

36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6

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

MutSpliceDB: A database of splice sites variants with RNA-seq based evidence on effects on splicing.

Palmisano A et al.

Human Mutation, 2021

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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."