Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.G324S
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OAT

NM_000274.4:p.G324S

Associated Papers

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.

Lin Y et al.

Bmc Medical Genetics, 2019

Additional mutations in argininosuccinate synthetase causing citrullinemia.

Kobayashi K et al.

Molecular Biology & Medicine, 1991

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.

Kobayashi K et al.

The Journal of Biological Chemistry, 1990

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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."