Varaico: Literature-Extracted Genetic Variants

Gene:ERF
Variant:p.R132*
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ERF

NM_001301035.2:p.R132*

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

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Bukowska-Olech E et al.

Frontiers in Molecular Biosciences, 2022

Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

Wright CF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable1_Reported
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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."