Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.N48D
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PTEN

NM_000314.8:p.N48D

Associated Papers

Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.

Kayhan G et al.

Genes, 2026

Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.

Serebriiskii IG et al.

Npj Genomic Medicine, 2023

38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6

A pilot study of on-site evaluation as external quality assessment for ISO 15189 accreditation of laboratories performing next-generation sequencing oncology tests.

Ravzanaadii M et al.

Journal of Clinical Laboratory Analysis, 2023

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

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumors.

Hovelson DH et al.

Neoplasia (new York, N.y.), 2015

25925381 (PubMed )
Supplement: mmc1.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."