Varaico: Literature-Extracted Genetic Variants

Gene:COL4A6
Variant:p.G406V
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COL4A6

NM_033641.4:p.G406V

Associated Papers

Detection of mutations in COL4A5 in patients with Alport syndrome.

Plant KE et al.

Human Mutation, 1999

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."