Varaico: Literature-Extracted Genetic Variants

Gene:TNS1
Variant:p.R130L
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TNS1

NM_001387777.1:p.R130L

Associated Papers

Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma.

Pakyari M et al.

The American Journal of Surgical Pathology, 2024

Structural mutation analysis of PTEN and its genotype-phenotype correlations in endometriosis and cancer.

Smith IN et al.

Proteins, 2016

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

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."