Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.A640T
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COL4A5

NM_033380.3:p.A640T

Associated Papers

Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.

Kawamoto R et al.

Journal of Nephrology, 2025

40753325 (PubMed )
Supplement: 40620_2025_2355_MOESM1_ESM.docx

The Phenotypic Spectrum of COL4A3 Heterozygotes.

Solanki KV et al.

Kidney International Reports, 2023

37849993 (PubMed )
Supplement: mmc1.pdf

Natural history of genetically proven autosomal recessive Alport syndrome.

Oka M et al.

Pediatric Nephrology (berlin, Germany), 2014

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Storey H et al.

Journal of the American Society of Nephrology : Jasn, 2013

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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."