Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.S98delFs
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EBP

NM_006579.3:p.S98delFs

Associated Papers

Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.

Hasegawa A et al.

Acta Dermato-venereologica, 2021

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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."