Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.G319A
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COL4A5

NM_033380.3:p.G319A

Associated Papers

X-linked Alport Syndrome with Type IV Collagen α5 Chain Staining Revealing Normal Expression in the Glomerular Basement Membrane and Negative on Bowman's Capsule and Distal Tubular Basement Membrane: A Case Report.

Okamoto T et al.

The Tohoku Journal of Experimental Medicine, 2023

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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."