Varaico: Literature-Extracted Genetic Variants

Gene:KAT8
Variant:p.K181N
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KAT8

NM_032188.3:p.K181N

Associated Papers

COX17 acetylation via MOF-KANSL complex promotes mitochondrial integrity and function.

Guhathakurta S et al.

Nature Metabolism, 2023

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

Li L et al.

The Journal of Clinical Investigation, 2020

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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."