Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.K943delFs
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COL4A5

NM_033380.3:p.K943delFs

Associated Papers

Detection of mutations in COL4A5 in patients with Alport syndrome.

Plant KE et al.

Human Mutation, 1999

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."