Article

Using computational approaches to enhance the interpretation of missense variants in the<i>PAX6</i>gene

2023-12-26

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> The PAX6 gene encodes a highly-conserved transcription factor involved in eye development. Heterozygous loss-of-function variants in PAX6 can cause a range of ophthalmic disorders including aniridia. A key molecular diagnostic challenge is that many PAX6 missense changes are presently classified as variants of uncertain significance. While computational tools can be used to asses...

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Literature Corpus work: 98321a30-8fd1-53b2-a533-4408b3b0fcb3
DOI: 10.1101/2023.12.21.23300370

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