Article

A systematic genotype-phenotype map for missense variants in the human intellectual disability-associated gene <i>GDI1</i>

2021-10-06

Abstract excerpt

Next generation sequencing has become a common tool in the diagnosis of genetic diseases. However, for the vast majority of genetic variants that are discovered, a clinical interpretation is not available. Variant effect mapping allows the functional effects of many single amino acid variants to be characterized in parallel. Here, we combine multiplexed functional assays with machine learning to assess the effects...

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Literature Corpus work: 149b84f1-9555-5817-bd8e-105fc8a32f7b
DOI: 10.1101/2021.10.06.463360

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