Varaico: Literature-Extracted Genetic Variants

Gene:ESPN
Variant:p.A147T
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ESPN

NM_031475.3:p.A147T

Associated Papers

Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis.

Izumi Y et al.

Cen Case Reports, 2020

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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."