Article

An <i>in vivo</i> platform to identify pathogenic loci

2023-11-04

Abstract excerpt

<h4>Summary</h4> Rare genetic disease discovery efforts typically lead to the identification of new disease genes. PreMIER ( Pre cision M edicine Integrated E xperimental R esources) is a collaborative platform designed to facilitate functional evaluation of human genetic variants in model systems, and to date the PreMIER Consortium has evaluated over 50 variants in patients with genetic disorders. To underst...

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Literature Corpus work: 399fc941-98f0-5754-b15d-d23e6e235645
DOI: 10.1101/2023.11.01.565153

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