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Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism
Autores principales: | Zhong, Lijuan, Li, Yin, He, Xiaohong, Dey, Subrata Kumar, Zhang, Quanfu, Banerjee, Santasree |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10617893/ https://www.ncbi.nlm.nih.gov/pubmed/36805600 http://dx.doi.org/10.1097/CM9.0000000000002417 |
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