Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.G422insFs
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ADNP

NM_001282531.3:p.G422insFs

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 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report.

Al-Enezi E et al.

Journal of Medical Case Reports, 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."