Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.D52_M53insFs
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AGXT

NM_000030.3:p.D52_M53insFs

Associated Papers

Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1.

Chevalier-Porst F et al.

American Journal of Medical Genetics. Part A, 2005

Identification of 5 novel mutations in the AGXT gene.

Basmaison O et al.

Human Mutation, 2000

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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."