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NEW YORK – Copy-number variants may influence whether someone with a PTEN mutation develops autism spectrum disorder or developmental delay, a new study has found.

Mutations in PTEN increase people's risk of developing certain cancers and cognitive or behavioral conditions, disorders collectively known as PTEN hamartoma tumor syndrome (PHTS). But people with the same germline PTEN mutations can manifest the condition in different ways, suggesting other factors may be at play.

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Nature News reports the US National Institutes of Health is investing in studies of the long-term effects of COVID-19.

The National Health Service is to offer Novartis's Zolgensma for spinal muscular atrophy later this year, according to the Guardian.

Taiwan is to launch a pilot program offering genetic testing to cancer patients, the Taipei Times reports.

In PLOS this week: loci linked to protection against tuberculosis, identification of loci associated with increased risk of squamous cell carcinoma of the aerodigestive tract, and more.

Mar
17
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In this webinar, Felix J. Hartmann of Stanford University will describe an approach that characterizes the metabolic regulome of individual cells together with their phenotypic identity.