Varaico: Literature-Extracted Genetic Variants

Gene:ERF
Variant:p.R233*
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ERF

NM_006494.4:p.R233*

Associated Papers

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Dentici ML et al.

European Journal of Human Genetics : Ejhg, 2024

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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."