Article

A comprehensive functional landscape of α-tubulin TUBA1A variants illuminates microtubule biology and refines clinical classification

2025-09-30

Abstract excerpt

Missense variant interpretation in highly conserved, paralog-rich gene families remains a critical bottleneck for precision medicine. Here, we developed an integrated experimental-computational platform to systematically assess the functional impact of all possible missense mutations in the α-tubulin TUBA1A. Combining high-throughput comprehensive mutagenesis, high-content imaging, convolutional neural network– dr...

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Literature Corpus work: 188a4283-2690-5ba9-908f-56ead6d8d57b
DOI: 10.1101/2025.09.29.679168

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