Varaico: Literature-Extracted Genetic Variants

Gene:ERF
Variant:p.F303I
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ERF

NM_006494.4:p.F303I

Associated Papers

Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.

Micale L et al.

European Journal of Human Genetics : Ejhg, 2025

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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."