Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G1036R
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COL4A5

NM_033380.3:p.G1036R

Associated Papers

Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing.

Aoto Y et al.

Kidney International Reports, 2022

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."