Varaico: Literature-Extracted Genetic Variants

Gene:ERF
Variant:p.G299fs
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ERF

NM_006494.4:p.G299fs

Associated Papers

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

Goto Y et al.

Scientific Reports, 2025

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

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.

Wei Y et al.

Molecular Oncology, 2023

37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S6

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

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Twigg SR et al.

Nature Genetics, 2013

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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."