Abnormal mRNA Splicing Effect of COL4A3 to COL4A5 Unclassified Variants

INTRODUCTION: Genetic diagnosis of Alport syndrome (AS), which results from pathogenic variants in COL4A3, COL4A4, or COL4A5 genes, is hindered by large numbers of unclassified variants detected using next-generation sequencing (NGS). We examined the impact on splicing of variants of uncertain signi...

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Detalles Bibliográficos
Autores principales: Zhang, Yanqin, Wang, Xiaoyuan, Zhou, Jianmei, Ding, Jie, Wang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10334324/
https://www.ncbi.nlm.nih.gov/pubmed/37441478
http://dx.doi.org/10.1016/j.ekir.2023.04.001

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