Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.W171C
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SIX1

NM_005982.4:p.W171C

Associated Papers

Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea.

Cho SH et al.

International Journal of Molecular Sciences, 2024

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."