Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.Q190*
Back to variants list

ADNP

NM_001282531.3:p.Q190*

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

[Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome].

Ma J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."