Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G325E
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COL4A5

NM_033380.3:p.G325E

Associated Papers

Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.

Massella L et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2013

Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.

Neri TM et al.

Human Mutation, 1998

The clinical spectrum of type IV collagen mutations.

Lemmink HH et al.

Human Mutation, 1997

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

Renieri A et al.

American Journal of Human Genetics, 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."