Varaico: Literature-Extracted Genetic Variants

Gene:HDAC8
Variant:p.G304R
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HDAC8

NM_018486.3:p.G304R

Associated Papers

Structural and Functional Influence of the Glycine-Rich Loop G302GGGY on the Catalytic Tyrosine of Histone Deacetylase 8.

Porter NJ et al.

Biochemistry, 2016

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

Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders.

Decroos C et al.

Biochemistry, 2015

Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders.

Decroos C et al.

Acs Chemical Biology, 2014

Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.

Feng L et al.

Journal of Human Genetics, 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Kaiser FJ et al.

Human Molecular Genetics, 2014

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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."