Varaico: Literature-Extracted Genetic Variants

Gene:COL4A4
Variant:p.R724H
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COL4A4

NM_000092.5:p.R724H

Associated Papers

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

Candidate Genetic Modifiers in Alport Syndrome: A Case Series.

Lujinschi ȘN et al.

Life (basel, Switzerland), 2025

40003707 (PubMed )
Supplement: life-15-00298-s001.zip › life-3339776-supplementary.pdf

The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.

Alkhidir S et al.

Scientific Reports, 2024

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