Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.G1488Splc
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COL4A3

NM_000091.5:p.G1488Splc

Associated Papers

Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

Weber S et al.

Pediatric Nephrology (berlin, Germany), 2016

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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."