Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.V180fs
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ADNP

NM_001282531.3:p.V180fs

Associated Papers

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.

Tinker RJ et al.

American Journal of Ophthalmology, 2025

40780579 (PubMed )
Supplement: NIHMS2116078-supplement-Supplementary_Material.pdf

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

Trajkova S et al.

Hgg Advances, 2024

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.

Neuhaus E et al.

Journal of Neurodevelopmental Disorders, 2024

38622540 (PubMed )
Supplement: 11689_2024_9532_MOESM1_ESM.xlsx › Sheet1
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