Varaico: Literature-Extracted Genetic Variants

Gene:CDC45
Variant:p.E12D
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CDC45

NM_003504.5:p.E12D

Associated Papers

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.

Unolt M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."