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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TWIST1

Variant:p.A186S

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TWIST1

NM_000474.4:p.A186S

hg38:chr7:19116766 C>A

Associated Papers

Genetic advances in craniosynostosis.

Lattanzi W et al.

American Journal of Medical Genetics. Part A, 2017

28160402 (PubMed )

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.

Seto ML et al.

American Journal of Medical Genetics. Part A, 2007

17343269 (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."