Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.K729insFs
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ADNP

NM_001282531.3:p.K729insFs

Associated Papers

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.

Harutyunyan L et al.

Brain Sciences, 2025

Somatic Mutations and Alzheimer's Disease.

Downey J et al.

Journal of Alzheimer's Disease : Jad, 2022

Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study.

Ivashko-Pachima Y et al.

Molecular Psychiatry, 2021

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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."