Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.N228fs
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PTEN

NM_000314.8:p.N228fs

Associated Papers

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies.

Torales LDG et al.

American Journal of Medical Genetics. Part A, 2025

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

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
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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."