Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.Q171_R172insFs
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PTEN

NM_000314.8:p.Q171_R172insFs

Associated Papers

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

Pilarski R et al.

Journal of Medical Genetics, 2011

Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity.

Laury AR et al.

Thyroid : Official Journal of the American Thyroid Association, 2011

Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes.

Zambrano E et al.

Endocrine Pathology, 2004

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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."