Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.I203delFs
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PTEN

NM_000314.8:p.I203delFs

Associated Papers

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

Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.

Yotsumoto Y et al.

Molecular and Clinical Oncology, 2020

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.

Hansen-Kiss E et al.

Journal of Medical Genetics, 2017

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.

Church DN et al.

Human Molecular Genetics, 2013

23528559 (PubMed )
Supplement: supp_ddt131_ddt131supp.pdf
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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."