Associated Papers
Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review.
Chen D et al.
Molecular Genetics & Genomic Medicine, 2025
39924725 (PubMed )
Supplement: MGG3-13-e70053-s002.xlsx › Sheet1
Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of COL4A5 variants.
Zellers M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38883771 (PubMed )
Supplement: media-1.pdf
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