Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.K1097*
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COL4A5

NM_033380.3:p.K1097*

Associated Papers

NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.

Omachi K et al.

Iscience, 2022

Temporal macular thinning associated with X-linked Alport syndrome.

Ahmed F et al.

Jama Ophthalmology, 2013

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

Martin P et al.

Journal of the American Society of Nephrology : Jasn, 1998

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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."