Varaico: Literature-Extracted Genetic Variants

Gene:ANK3
Variant:p.T3666fs
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ANK3

NM_020987.5:p.T3666fs

Associated Papers

Roles and mechanisms of ankyrin-G in neuropsychiatric disorders.

Yoon S et al.

Experimental & Molecular Medicine, 2022

35794211 (PubMed )
Supplement: 12276_2022_798_MOESM1_ESM.pdf

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

Kloth K et al.

European Journal of Medical Genetics, 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."