Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.R304W
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C3

NM_000064.4:p.R304W

Associated Papers

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.

Engel K et al.

Human Mutation, 2009

NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.

Pros E et al.

Human Mutation, 2006

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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."