Associated Papers
High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia.
Koľvek G et al.
Biomedicines, 2025
40868214 (PubMed )
Supplement: biomedicines-13-01960-s001.zip › Supplementary_File_S1_-_List_of_path_variants.pdf
Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport syndrome.
Pagniez MS et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
39810285 (PubMed )
Supplement: gfaf011_supplemental_files.zip › Supplementary_Tables_S1S2S3_pdf.pdf
Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.
Zhang Y et al.
Molecular Genetics & Genomic Medicine, 2019
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
28911095 (PubMed )
Supplement: gkx557_supp.zip › nar-00132-met-n-2017-File009.pdf
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Evidence of digenic inheritance in Alport syndrome.
Mencarelli MA et al.
Journal of Medical Genetics, 2015
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