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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
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 |