Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.N329fs
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PTEN

NM_000314.8:p.N329fs

Associated Papers

Multi-omics and pharmacological characterization of patient-derived glioma cell lines.

Wu M et al.

Nature Communications, 2024

39112531 (PubMed )
Supplement: 41467_2024_51214_MOESM5_ESM.xlsx › Fig._1B

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

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_9.xlsx › Sheet1

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Pena-Couso L et al.

Orphanet Journal of Rare Diseases, 2022

35227301 (PubMed )
Supplement: 13023_2021_2079_MOESM1_ESM.pdf

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Kanavy DM et al.

Genome Medicine, 2019

31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S10_PTEN_A

Targeted deep sequencing of mucinous ovarian tumors reveals multiple overlapping RAS-pathway activating mutations in borderline and cancerous neoplasms.

Mackenzie R et al.

Bmc Cancer, 2015

25986173 (PubMed )
Supplement: 12885_2015_1421_MOESM1_ESM.xls › Sheet1
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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."