October 14, 2025

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by: admin

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Tags: Autismlinked, parsing, People, phenotypes, shared, variants

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Categories: autism

Parsing phenotypes in individuals with shared autism-linked variants; and extra

Pulling threads: A new study describes how genetic background can influence neurodevelopmental phenotypes linked to a particular gene variant. To wit, when a parent and child both carry the 16p12.1 deletion, they often experience different clinical presentations. The researchers evaluated 17 classes of secondary variants and identified those that influenced risk for specific traits, such as neurological issues. In addition, the relationship between genotype and phenotype varied depending on inclusion criteria for a study population, further complicating this kind of network analysis. Cell

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