Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.E125K
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EFNB1

NM_004429.5:p.E125K

Associated Papers

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

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

A novel de novo mutation within EFNB1 gene in a young girl with craniofrontonasal syndrome.

Apostolopoulou D et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2012

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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."