Varaico: Literature-Extracted Genetic Variants

Gene:ESCO2
Variant:p.R552*
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ESCO2

NM_001017420.3:p.R552*

Associated Papers

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.

Kantaputra PN et al.

European Journal of Orthodontics, 2021

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.

Kantaputra PN et al.

Archives of Oral Biology, 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."