Article

Functional assessments of <i>PTEN</i> variants using machine-assisted phenotype scoring

2020-10-16

Abstract excerpt

<h4>ABSTRACT</h4> Genetic testing is widely used in evaluating a patient’s predisposition for developing a malignancy. In the case of cancer, when a functionally impactful inherited mutation (i.e. genetic variant) is identified in a disease-relevant gene, the patient is at elevated risk of developing a lesion in their lifetime. Unfortunately, as the rate and coverage of genetic testing has accelerated, our abilit...

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Literature Corpus work: e13b4f6d-0658-5ff4-b037-75f2625c5e8a
DOI: 10.1101/2020.10.16.342915

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