Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.W101Splc
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EBP

NM_006579.3:p.W101Splc

Associated Papers

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.

Pacault M et al.

European Journal of Human Genetics : Ejhg, 2018

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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."