Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G359R
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COL4A5

NM_033380.3:p.G359R

Associated Papers

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Giovanella S et al.

Clinical Genetics, 2026

40533884 (PubMed )
Supplement: CGE-109-136-s001.docx

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

Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.

Vaisitti T et al.

Journal of Nephrology, 2021

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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."