Varaico: Literature-Extracted Genetic Variants

Gene:DCAF17
Variant:p.M1T
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DCAF17

NM_025000.4:p.M1T

Associated Papers

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

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