Varaico: Literature-Extracted Genetic Variants

Gene:HAAO
Variant:p.G235insFs
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HAAO

NM_012205.3:p.G235insFs

Associated Papers

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

Yang N et al.

Kidney International, 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."