Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.E210*
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EFNB1

NM_004429.5:p.E210*

Associated Papers

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Altunoglu U et al.

Turkish Archives of Pediatrics, 2025

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.

Bukowska-Olech E et al.

Orphanet Journal of Rare Diseases, 2021

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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."