Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.I179insFs
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ADNP

NM_001282531.3:p.I179insFs

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

Helsmoortel-van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report.

Chen LJ et al.

Frontiers in Pediatrics, 2023

Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation.

Levine J et al.

Journal of Molecular Neuroscience : Mn, 2019

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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."