Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G325*
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COL4A5

NM_033380.3:p.G325*

Associated Papers

Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome.

Koyama Y et al.

Clinical and Experimental Nephrology, 2024

Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

Barker DF et al.

American Journal of Medical Genetics, 2001

The clinical spectrum of type IV collagen mutations.

Lemmink HH et al.

Human Mutation, 1997

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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."