Associated Papers
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Gibson JT et al.
Scientific Reports, 2022
35177655 (PubMed )
Supplement: 41598_2022_6525_MOESM1_ESM.docx
Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.
Horinouchi T et al.
Journal of the American Society of Nephrology : Jasn, 2018
A Split-Luciferase-Based Trimer Formation Assay as a High-throughput Screening Platform for Therapeutics in Alport Syndrome.
Omachi K et al.
Cell Chemical Biology, 2018
Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.
Fu XJ et al.
European Journal of Human Genetics : Ejhg, 2016
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