Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.L220V
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PTEN

NM_000314.8:p.L220V

Associated Papers

In Silico Deciphering of the Potential Impact of Variants of Uncertain Significance in Hereditary Colorectal Cancer Syndromes.

Fasano C et al.

Cells, 2024

Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.

MacFarland SP et al.

American Journal of Medical Genetics. Part A, 2024

Custom target-sequencing in triple-negative and luminal breast cancer from young Brazilian patients.

Serio PAMP et al.

Clinics (sao Paulo, Brazil), 2024

Response to everolimus in a patient with refractory HGBL-NOS harboring multiple genomic aberrations in PTEN.

Caldwell I et al.

Leukemia & Lymphoma, 2021

Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.

Smith IN et al.

American Journal of Human Genetics, 2019

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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."