Varaico: Literature-Extracted Genetic Variants

Gene:DCAF17
Variant:p.I371delFs
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DCAF17

NM_025000.4:p.I371delFs

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

Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.

Kumari R et al.

Journal of Neuroendocrinology, 2022

Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family.

Chen G et al.

Frontiers in Genetics, 2021

Woodhouse-Sakati syndrome: A review.

Messina C

Revue Neurologique, 0

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