Varaico: Literature-Extracted Genetic Variants

Gene:ERF
Variant:p.K96*
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ERF

NM_006494.4:p.K96*

Associated Papers

ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report.

Jumayeva G et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2025

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

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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."