Varaico: Literature-Extracted Genetic Variants

Gene:ATAD1
Variant:p.R9H
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ATAD1

NM_001321967.2:p.R9H

Associated Papers

Conserved structural elements specialize ATAD1 as a membrane protein extraction machine.

Wang L et al.

Elife, 2022

Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel.

Umanah GKE et al.

Science Translational Medicine, 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."