Varaico: Literature-Extracted Genetic Variants

Gene:ERF
Variant:p.R218*
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ERF

NM_006494.4:p.R218*

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

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

Intrafamilial variability in six family members with ERF-related craniosynostosis syndrome type 4.

Moddemann MK et al.

American Journal of Medical Genetics. Part A, 2022

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

Exome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function ERF Mutations.

Huang FW et al.

Cancer Discovery, 2017

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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."