Varaico: Literature-Extracted Genetic Variants

Gene:CEP57
Variant:p.E221insFs
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CEP57

NM_014679.5:p.E221insFs

Associated Papers

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.

Garrity M et al.

Cold Spring Harbor Molecular Case Studies, 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."