Varaico: Literature-Extracted Genetic Variants

Gene:TEP1
Variant:p.G165E
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TEP1

NM_007110.5:p.G165E

Associated Papers

Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.

Tauchmannová K et al.

Physiological Research, 2024

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

Nelen MR et al.

European Journal of Human Genetics : Ejhg, 1999

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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."