Varaico: Literature-Extracted Genetic Variants

Gene:HDAC8
Variant:p.E186K
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HDAC8

NM_018486.3:p.E186K

Associated Papers

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

Virtual Screening of Different Subclasses of Lignans with Anticancer Potential and Based on Genetic Profile.

Maia MDS et al.

Molecules (basel, Switzerland), 2023

Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.

Liu C et al.

Molecular Genetics & Genomic Medicine, 2020

[Clinical and genetic analysis of a neonate with Cornelia de Lange syndrome 5 caused by HDAC8 gene mutation].

Ma J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

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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."