Varaico: Literature-Extracted Genetic Variants

Gene:HDAC8
Variant:p.S150P
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HDAC8

NM_018486.3:p.S150P

Associated Papers

Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders.

Deardorff MA et al.

Protein Science : a Publication of the Protein Society, 2016

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

Parenti I 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."