Varaico: Literature-Extracted Genetic Variants

Gene:ATAD1
Variant:p.Q54H
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ATAD1

NM_001321967.2:p.Q54H

Associated Papers

Congenital immobility and stiffness related to biallelic ATAD1 variants.

Bunod R et al.

Neurology. Genetics, 2020

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Wolf NI et al.

Brain : a Journal of Neurology, 2018

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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."