Varaico: Literature-Extracted Genetic Variants

Gene:SH3D19
Variant:p.G4_R7delFs
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SH3D19

NM_001378122.1:p.G4_R7delFs

Associated Papers

Genetic mosaicism in dermatology: Clinical utility of genetic testing of skin lesions.

Doolan BJ et al.

The Australasian Journal of Dermatology, 2020

Chondrodysplasia punctata (CDPX2) in a male caused by single-gene mosaicism: A 20-year follow-up.

Honigman A et al.

The Australasian Journal of Dermatology, 2019

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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."