Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G635D
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COL4A5

NM_033380.3:p.G635D

Associated Papers

A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants.

Zeng M et al.

Kidney International Reports, 2025

40630291 (PubMed )
Supplement: mmc1.pdf

Temporal macular thinning associated with X-linked Alport syndrome.

Ahmed F et al.

Jama Ophthalmology, 2013

Detection of mutations in COL4A5 in patients with Alport syndrome.

Plant KE et al.

Human Mutation, 1999

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

Martin P et al.

Journal of the American Society of Nephrology : Jasn, 1998

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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."