Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.Y111delFs
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EBP

NM_006579.3:p.Y111delFs

Associated Papers

Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings.

Del Río-Martínez CJ et al.

Pediatric Dermatology, 2023

Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC.

Batista M et al.

Dermatology Online Journal, 2020

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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."