Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.N276fs
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PTEN

NM_000314.8:p.N276fs

Associated Papers

PLASMA CIRCULATING TUMOR DNA TO ASSIST IN THE DIAGNOSIS OF UNKNOWN PRIMARY MALIGNANCY UNDERLYING CHOROIDAL METASTASES.

Francis JH et al.

Retinal Cases & Brief Reports, 2025

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants

Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome.

Cameselle-Teijeiro J et al.

American Journal of Clinical Pathology, 2015

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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."