Varaico: Literature-Extracted Genetic Variants

Gene:HDAC4
Variant:p.R574W
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HDAC4

NM_006037.4:p.R574W

Associated Papers

A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.

Han JY et al.

Annals of Clinical and Laboratory Science, 2017

Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.

Han JY et al.

European Journal of Medical Genetics, 2017

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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."