Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.N212Splc
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PTEN

NM_000314.8:p.N212Splc

Associated Papers

Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.

Yeh CN et al.

Npj Precision Oncology, 2025

39809865 (PubMed )
Supplement: 41698_2025_802_MOESM1_ESM.pdf

Sirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome.

Zabeida A et al.

Pediatric Blood & Cancer, 2024

Evaluation of the Clinical Utility of Genomic Profiling to Inform Selection of Clinical Trial Therapy in Salivary Gland Cancer.

Rack S et al.

Cancers, 2022

Molecular dimensions of gastrointestinal tumors: some thoughts for digestion.

Cohen MM

American Journal of Medical Genetics. Part A, 2003

PTEN: one gene, many syndromes.

Eng C

Human Mutation, 2003

Sensitivity and predictive value of criteria for p53 germline mutation screening.

Chompret A et al.

Journal of Medical Genetics, 2001

Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.

Celebi JT et al.

Human Genetics, 2000

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh DJ et al.

Human Molecular Genetics, 1999

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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."