Varaico: Literature-Extracted Genetic Variants

Gene:DCAF17
Variant:p.W129*
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DCAF17

NM_025000.4:p.W129*

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

A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature.

Kurnaz E et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.

Sheridan MB et al.

Case Reports in Genetics, 2015

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

Alazami AM et al.

Clinical Genetics, 2010

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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."