Varaico: Literature-Extracted Genetic Variants

Gene:DFFB
Variant:p.E68K
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DFFB

NM_004402.4:p.E68K

Associated Papers

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

Rainger J et al.

Human Molecular Genetics, 2012

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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."