Associated Papers
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
A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome.
Yavas C et al.
Molecular Syndromology, 2024
Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.
Papazachariou L et al.
Plos One, 2014
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
Longo I et al.
Kidney International, 2002
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.
Shulman C et al.
Kidney Medicine, 0
33851121 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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