Varaico: Literature-Extracted Genetic Variants

Gene:ABCD3
Variant:p.K123M
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ABCD3

NM_002858.4:p.K123M

Associated Papers

Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.

Lage MD et al.

Plos One, 2014

The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I.

Mesa-Torres N et al.

Plos One, 2013

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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."