Varaico: Literature-Extracted Genetic Variants

Gene:CDC45
Variant:p.K514_N515delFs
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CDC45

NM_001178010.2:p.K514_N515delFs

Associated Papers

A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.

Knapp KM et al.

European Journal of Medical Genetics, 2021

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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."