Varaico: Literature-Extracted Genetic Variants

Gene:DCAF17
Variant:p.A17fs
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DCAF17

NM_025000.4:p.A17fs

Associated Papers

Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.

Shah K et al.

Clinical and Experimental Dermatology, 2020

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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."