Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G852R
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COL4A5

NM_033380.3:p.G852R

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

Prenatal diagnosis of Alport syndrome.

Nomura S et al.

Genetic Counseling (geneva, Switzerland), 1997

[Alport syndrome].

Kawai S et al.

Ryoikibetsu Shokogun Shirizu, 1997

Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome. Japanese Alport Network.

Naito I et al.

Kidney International, 1996

The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.

Kawai S et al.

Kidney International, 1996

A single-base mutation in exon 31 converting glycine 852 to arginine in the collagenous domain in an Alport syndrome patient.

Kawai S et al.

Nephron, 1996

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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."