Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.N340delFs
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PTEN

NM_000314.8:p.N340delFs

Associated Papers

Cutaneous lipomas and macrocephaly as early signs of PTEN hamartoma tumor syndrome.

Martin H et al.

Pediatric Dermatology, 2020

Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients.

Li G et al.

Plos One, 2018

Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

Siroy AE et al.

The Journal of Investigative Dermatology, 2015

25148578 (PubMed )
Supplement: NIHMS622327-supplement-supplement_1.pdf

Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome.

Arai E et al.

International Journal of Cancer, 2014

24504440 (PubMed )
Supplement: ijc0135-1330-sd8.pdf

Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

Heald B et al.

Gastroenterology, 2010

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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."