Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.*404S
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PTEN

NM_000314.8:p.*404S

Associated Papers

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

MacFarland SP et al.

American Journal of Medical Genetics. Part A, 2024

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."