Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.Q22*
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SIX1

NM_005982.4:p.Q22*

Associated Papers

Transcriptomic analysis reveals the role of SIX1 in mouse cranial neural crest patterning and bone development.

Baxi A et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023

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

Timberlake AT et al.

Human Genetics, 2023

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.

Calpena E et al.

Journal of Medical Genetics, 2022

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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."