Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.L320delFs
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PTEN

NM_000314.8:p.L320delFs

Associated Papers

Exemestane plus everolimus and palbociclib in metastatic breast cancer: clinical response and genomic/transcriptomic determinants of resistance in a phase I/II trial.

Gómez Tejeda Zañudo J et al.

Nature Communications, 2024

38503755 (PubMed )
Supplement: 41467_2024_45835_MOESM7_ESM.xlsx › Mutation_calls_-_WES

Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing.

Alba-Pavón P et al.

Scientific Reports, 2023

36805510 (PubMed )
Supplement: 41598_2023_29982_MOESM1_ESM.pdf

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."