Varaico: Literature-Extracted Genetic Variants

Gene:EFNA4
Variant:p.H60Y
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EFNA4

NM_005227.3:p.H60Y

Associated Papers

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.

Tung ML et al.

Genes, 2022

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

Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma.

Diefenbach RJ et al.

Cancers, 2019

31795494 (PubMed )
Supplement: cancers-11-01905-s001.zip › cancers-620854-final-supplementary › cancers-620854-final-supplementary_-.xlsx › Table_S2

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

Clarke CM et al.

American Journal of Medical Genetics. Part A, 2018

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."