Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G406V
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COL4A5

NM_033380.3:p.G406V

Associated Papers

Adverse effects of Alport syndrome-related Gly missense mutations on collagen type IV: Insights from molecular simulations and experiments.

Yeo J et al.

Biomaterials, 2020

Genotype and Outcome After Kidney Transplantation in Alport Syndrome.

Gillion V et al.

Kidney International Reports, 2018

Detection of mutations in COL4A5 in patients with Alport syndrome.

Plant KE et al.

Human Mutation, 1999

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

Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.

Boye E et al.

Human Mutation, 1995

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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."