Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.E125A
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EFNB1

NM_004429.5:p.E125A

Associated Papers

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Héron D et al.

Brain : a Journal of Neurology, 2025

40905141 (PubMed )
Supplement: awaf311_supplementary_data.zip › brain-2024-03287-File005.xlsx › Feuil1

Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman.

Pachajoa H et al.

Frontiers in Genetics, 2022

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