Varaico: Literature-Extracted Genetic Variants

Gene:DCAF17
Variant:p.K90fs
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DCAF17

NM_025000.4:p.K90fs

Associated Papers

Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review.

Kohil A et al.

Orphanet Journal of Rare Diseases, 2023

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

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

Ali RH et al.

Clinical Genetics, 2016

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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."