Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.T111I
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EFNB1

NM_004429.5:p.T111I

Associated Papers

Visual Pathways in Humans With Ephrin-B1 Deficiency Associated With the Cranio-Fronto-Nasal Syndrome.

Hoffmann MB et al.

Investigative Ophthalmology & Visual Science, 2015

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.

Makarov R et al.

Bmc Medical Genetics, 2010

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

Passos-Bueno MR et al.

Frontiers of Oral Biology, 2008

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

Wieland I et al.

Human Mutation, 2005

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Wieland I et al.

American Journal of Human Genetics, 2004

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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."