Varaico: Literature-Extracted Genetic Variants

Gene:COL4A3
Variant:p.M1I
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COL4A3

NM_000091.5:p.M1I

Associated Papers

Generation of the induced pluripotent stem cell line (NCKDi004-A) from a 17-year-old patient with Alport syndrome carrying a homozygous mutation in COL4A3 gene.

Wu H et al.

Stem Cell Research, 2021

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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."