Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.K966E
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COL4A5

NM_033380.3:p.K966E

Associated Papers

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

Papazachariou L et al.

Clinical Genetics, 2017

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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."