Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.R730delFs
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ADNP

NM_001282531.3:p.R730delFs

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

Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.

Pascolini G et al.

American Journal of Medical Genetics. Part A, 2024

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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."