Varaico: Literature-Extracted Genetic Variants

Gene:KAT2B
Variant:p.A46V
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KAT2B

NM_003884.5:p.A46V

Associated Papers

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.

Rittiner JE et al.

Neuron, 2016

Multifunctional factor ENY2 is associated with the THO complex and promotes its recruitment onto nascent mRNA.

Kopytova DV et al.

Genes & Development, 2010

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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."