Article

Functional and structural deficiencies of Gemin5 variants associated with neurological disease

2022-01-25

Abstract excerpt

<h4>ABSTRACT</h4> Dysfunction of RNA-binding proteins are often linked to a wide range of human disease in general, and particularly with neurological conditions. Gemin5 is a member of the survival of motor neuron (SMN) complex, a ribosome-binding protein and a translation reprogramming factor. Recently, pathogenic mutations in Gemin5 protein have been reported but the functional consequences of these variants re...

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Literature Corpus work: e920e881-036a-593e-85ec-24c8641a91d8
DOI: 10.1101/2022.01.25.477707

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