Varaico: Literature-Extracted Genetic Variants

Gene:ERF
Variant:p.G53R
Back to variants list

ERF

NM_006494.4:p.G53R

Associated Papers

Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis.

Goto Y et al.

Scientific Reports, 2025

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Spataro N et al.

Genes, 2023

36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1

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

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Glass GE et al.

American Journal of Medical Genetics. Part A, 2019

ERF mutations reveal a balance of ETS factors controlling prostate oncogenesis.

Bose R et al.

Nature, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."