Article

Identification of a synonymous variant of NPHP3 causing aberrant splicing and its pathogenicity in a Chinese pedigree

2023-11-21

Abstract excerpt

<h4>Purpose: </h4> Nephronophthisis (NPHP) is an autosomal recessive genetic disease. Despite the rapid development of gene detection technology, genetic causes remain unclear in most patients with NPHP. Unidentified pathogenic genes and unrecognized pathogenic variants may contribute to this issue. In this study, we demonstrated the pathogenicity of a synonymous variant of NPHP3 causing aberrant splicing in a Chi...

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Literature Corpus work: 422747be-96fb-5d37-abdb-5a820f7388c3
DOI: 10.21203/rs.3.rs-3563483/v1

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