Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.K227E
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AGXT

NM_000030.3:p.K227E

Associated Papers

The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.

Coulter-Mackie MB et al.

Molecular Genetics and Metabolism, 2004

Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

Coulter-Mackie MB et al.

Molecular Genetics and Metabolism, 2001

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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."