Varaico: Literature-Extracted Genetic Variants

Gene:ERF
Variant:p.G8Splc
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ERF

NM_006494.4:p.G8Splc

Associated Papers

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

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.

Chaudhry A et al.

American Journal of Medical Genetics. Part A, 2015

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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."