Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.T1587R
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COL4A3

NM_000091.5:p.T1587R

Associated Papers

Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?

Mastrangelo A et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022

Evidence of digenic inheritance in Alport syndrome.

Mencarelli MA et al.

Journal of Medical Genetics, 2015

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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."