Associated Papers
Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China.
Zhou C et al.
Frontiers in Genetics, 2025
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
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
Gibson J et al.
Journal of the American Society of Nephrology : Jasn, 2021
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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