collagen alpha-5(IV) chain isoform X1 [Homo sapiens]

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A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family. [BMC Med Genomics. 2024]
A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.
Chen S, Xu G, Zhao Z, Du J, Shen B, Li C. BMC Med Genomics. 2024 Apr 26; 17(1):108. Epub 2024 Apr 26.
Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay. [Mol Genet Genomic Med. 2024]
Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.
Zhang R, Lang Y, Shi X, Zhang Y, Liu X, Pan F, Qiao D, Teng X, Shao L. Mol Genet Genomic Med. 2024 Feb; 12(2):e2395.
[Genetic testing and prenatal diagnosis for two Chinese pedigrees affected with Alport syndrome due to variants of COL4A5 gene]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Genetic testing and prenatal diagnosis for two Chinese pedigrees affected with Alport syndrome due to variants of COL4A5 gene].
Ma Q, Che L, Kong X. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Nov 10; 40(11):1356-1359.

RefSeq genomic sequence
See the genomic reference sequence for the COL4A5 gene (NG_011977.2).
RefSeq mRNA
See reference mRNA sequence for the COL4A5 gene (XM_011530849.3).
RefSeq protein isoforms
See 16 reference sequence protein isoforms for the COL4A5 gene.

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Protein