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
Exonic splicing code and coordination of divalent metals in proteins.
Bakhtiar D et al.
Nucleic Acids Research, 2024
38055834 (PubMed )
Supplement: gkad1161_supplemental_files.zip › Supplementary_information-FORMATTED-revised.pdf
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.
Mohamed M et al.
Annals of Human Genetics, 2022
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