Varaico: Literature-Extracted Genetic Variants

Gene:SH3D19
Variant:p.S56insFs
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SH3D19

NM_001378122.1:p.S56insFs

Associated Papers

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

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."