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Article

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

Chinese medical journal - 5 Nov 2023

Zhong Lijuan, Li Yin, He Xiaohong, Dey Subrata Kumar, Zhang Quanfu, Banerjee Santasree

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PMID: 36805600
DOI: 10.1097/CM9.0000000000002417
PMCID: PMC10617893

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Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism.PMID 36805600Read ↗

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