Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.G157Splc
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EBP

NM_006579.3:p.G157Splc

Associated Papers

Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).

Whittock NV et al.

The Journal of Investigative Dermatology, 2003

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

Herman GE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."