Varaico: Literature-Extracted Genetic Variants

Gene:EFNA4
Variant:p.P117T
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EFNA4

NM_005227.3:p.P117T

Associated Papers

De novo ALX4 variant detected in child with non-syndromic craniosynostosis.

Fonteles CS et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2021

Germline MUTYH Mutation in a Pediatric Cancer Survivor Developing a Secondary Malignancy.

Lavergne V et al.

Journal of Pediatric Hematology/oncology, 2020

Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Heuzé Y et al.

Current Genetic Medicine Reports, 2014

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.

Merrill AE et al.

Human Molecular Genetics, 2006

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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."