Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.V53insFs
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PTEN

NM_000314.8:p.V53insFs

Associated Papers

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

Bubien V et al.

Journal of Medical Genetics, 2013

Hamartoma and lentiginosis syndromes: clinical and molecular aspects.

Marsh DJ et al.

Frontiers of Hormone Research, 2001

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh DJ et al.

Human Molecular Genetics, 1999

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

Marsh DJ et al.

Human Molecular Genetics, 1998

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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."