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Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism

Detalles Bibliográficos
Autores principales: Zhong, Lijuan, Li, Yin, He, Xiaohong, Dey, Subrata Kumar, Zhang, Quanfu, Banerjee, Santasree
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
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