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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GOPC

Variant:p.G14S

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GOPC

NM_020399.4:p.G14S

hg38:chr6:117602249 C>T

Associated Papers

Additional mutations in argininosuccinate synthetase causing citrullinemia.

Kobayashi K et al.

Molecular Biology & Medicine, 1991

1943692 (PubMed )

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.

Kobayashi K et al.

The Journal of Biological Chemistry, 1990

2358466 (PubMed )

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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."