Varaico: Literature-Extracted Genetic Variants

Gene:CDC45
Variant:p.R157C
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CDC45

NM_003504.5:p.R157C

Associated Papers

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Miller KA et al.

Journal of Medical Genetics, 2017

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL et al.

American Journal of Human Genetics, 2016

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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."