Article

Identification of two novel variants in NUS1 gene in two unrelated Chinese families with intellectual disorder and epilepsy

2024-04-02

Abstract excerpt

<title>Abstract</title> <p>Background Mutations in the <italic>NUS1</italic> gene, which encodes a Nogo-B receptor (NgBR), are related to congenital disorder of glycosylation, epilepsy, and Parkinson’s disease. However, due to the limited number of cases with genotype and detailed clinical features, more cases are needed to better understand the functional and phenotypic characteristics of <italic>NUS1</italic>...

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Literature Corpus work: 57b48195-c22d-5cb7-8341-158bc6de8da3
DOI: 10.21203/rs.3.rs-4158407/v1

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