Varaico: Literature-Extracted Genetic Variants

Gene:CDC45
Variant:p.V106V
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CDC45

NM_003504.5:p.V106V

Associated Papers

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.

Nielsen-Dandoroff E et al.

European Journal of Human Genetics : Ejhg, 2023

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

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC et al.

Nature Genetics, 2015

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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."