Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.D375fs
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PTEN

NM_000314.8:p.D375fs

Associated Papers

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.

Mester JL et al.

Human Mutation, 2018

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

Vanderver A et al.

American Journal of Medical Genetics. Part A, 2014

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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."