Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.M264insFs
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PTEN

NM_000314.8:p.M264insFs

Associated Papers

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

The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.

Tsou HC et al.

American Journal of Human Genetics, 1997

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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."