Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.W19*
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EFNB1

NM_004429.5:p.W19*

Associated Papers

Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation.

Gürsoy S et al.

Molecular Syndromology, 2021

MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.

Gajera M et al.

Bmc Medical Genomics, 2019

31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 3_Human_Cleft_Lip__Table_S3__Significant_R2.xlsx › Single_Gene_Significant

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

Passos-Bueno MR et al.

Frontiers of Oral Biology, 2008

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.

Wieland I et al.

Clinical Genetics, 2007

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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."