Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.P1461L
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COL4A3

NM_000091.5:p.P1461L

Associated Papers

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

Polygenic risk alters the penetrance of monogenic kidney disease.

Khan A et al.

Nature Communications, 2023

38097619 (PubMed )
Supplement: 41467_2023_43878_MOESM5_ESM.xlsx › M3

The Phenotypic Spectrum of COL4A3 Heterozygotes.

Solanki KV et al.

Kidney International Reports, 2023

37849993 (PubMed )
Supplement: mmc1.pdf

Polygenic risk affects the penetrance of monogenic kidney disease.

Khan A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37214819 (PubMed )
Supplement: media-2.xlsx › M3

Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.

Cervera-Acedo C et al.

Bmc Nephrology, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."