Varaico: Literature-Extracted Genetic Variants

Gene:ERF
Variant:p.R86H
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ERF

NM_006494.4:p.R86H

Associated Papers

Digenic impairments of haploinsufficient genes in patients with craniosynostosis.

Yu JW et al.

Jci Insight, 2025

39989454 (PubMed )
Supplement: jciinsight-10-176985-s042.pdf

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.

Singh R et al.

Cold Spring Harbor Molecular Case Studies, 2021

34117072 (PubMed )
Supplement: supp_mcs.a005991_Supplemental_Material.pdf

Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.

Yoon JG et al.

Neurosurgery, 2020

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