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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIX1

Variant:p.P116S

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SIX1

NM_005982.4:p.P116S

hg38:chr14:60648844 G>A

Associated Papers

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.

Timberlake AT et al.

Human Genetics, 2023

35997807 (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."