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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNA11

Variant:p.V182V

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GNA11

NM_002067.5:p.V182V

hg38:chr19:3115013 C>T

Associated Papers

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Shirley MD et al.

The New England Journal of Medicine, 2013

23656586 (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."