Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.G760insFs
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COL4A4

NM_000092.5:p.G760insFs

Associated Papers

Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.

Huang Y et al.

Renal Failure, 2025

41087309 (PubMed )
Supplement: IRNF_A_2570072_SM8037.xlsx › Sheet1

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 › M1

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 › M1

Clinical impact of genomic testing in patients with suspected monogenic kidney disease.

Jayasinghe K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32939031 (PubMed )
Supplement: 41436_2020_963_MOESM3_ESM.xlsx › Sheet1

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Longo I et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006

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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."