Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.L16_R17delins
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EBP

NM_006579.3:p.L16_R17delins

Associated Papers

Severe X-linked chondrodysplasia punctata in nine new female fetuses.

Lefebvre M et al.

Prenatal Diagnosis, 2015

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

Cañueto J et al.

The British Journal of Dermatology, 2012

X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings.

Umranikar S et al.

Prenatal Diagnosis, 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."