Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.R216*
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ADNP

NM_001282531.3:p.R216*

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

Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.

Levine J et al.

Journal of Molecular Neuroscience : Mn, 2024

Tauopathy in the young autistic brain: novel biomarker and therapeutic target.

Grigg I et al.

Translational Psychiatry, 2020

Latency and interval therapy affect the evolution in metastatic colorectal cancer.

Nikbakht H et al.

Scientific Reports, 2020

31953485 (PubMed )
Supplement: 41598_2020_57476_MOESM5_ESM.xlsx › All_non-silent_mutations

The ADNP Syndrome and CP201 (NAP) Potential and Hope.

Gozes I

Frontiers in Neurology, 2020

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.

Gozes I et al.

Translational Psychiatry, 2017

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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."