Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G406D
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COL4A5

NM_033380.3:p.G406D

Associated Papers

Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome.

Kitakado H et al.

Kidney International Reports, 2025

41426028 (PubMed )
Supplement: mmc1.pdf

COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype.

Krüger BM et al.

Kidney International Reports, 2025

40485705 (PubMed )
Supplement: mmc1.pdf

Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic.

Schott C et al.

Genes, 2025

40282368 (PubMed )
Supplement: genes-16-00408-s001.zip › genes-3515821-supplementary.pdf

Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.

Schott C et al.

Kidney International Reports, 2025

39990878 (PubMed )
Supplement: mmc1.pdf
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