Varaico: Literature-Extracted Genetic Variants

Gene:ATAD3A
Variant:p.A216_V222delFs
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ATAD3A

NM_001170535.3:p.A216_V222delFs

Associated Papers

Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.

Ebihara T et al.

Molecular Genetics and Metabolism Reports, 2022

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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."