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Article

Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.

Journal of biomolecular structure & dynamics - 1 Apr 2019

Smith Iris Nira, Thacker Stetson, Jaini Ritika, Eng Charis

Abstract excerpt

Individuals with germline mutations in the tumor suppressor gene phosphatase and tensin homolog (PTEN), irrespective of clinical presentation, are diagnosed with PTEN hamartoma tumor syndrome (PHTS). PHTS confers a high risk of breast, thyroid, and other cancers or autism spectrum disorder (ASD) with macrocephaly. It remains unclear why mutations in one gene can lead to seemingly disparate phenotypes. Thus, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29663862
DOI: 10.1080/07391102.2018.1465854
PMCID: PMC6235728

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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