Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.C71fs
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PTEN

NM_000314.8:p.C71fs

Associated Papers

Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.

Zhang T et al.

Biorxiv : the Preprint Server for Biology, 2025

40161734 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_4

Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: a case report.

Hall MJ et al.

Frontiers in Oncology, 2025

Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps.

Jelsig AM et al.

Journal of Human Genetics, 2023

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