Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.R264*
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ADNP

NM_001282531.3:p.R264*

Associated Papers

ADNP Exhibits Methyltransferase Activity in Overexpression Systems and Modulates DNA and Histone Methylation.

D'Incal CP et al.

Autism Research : Official Journal of the International Society for Autism Research, 2025

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.

Hennick K et al.

Biorxiv : the Preprint Server for Biology, 2025

40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

Malmgren H et al.

Frontiers in Genetics, 2025

40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1

Genetic Characterization of Primary Mediastinal B-Cell Lymphoma: Pathogenesis and Patient Outcomes.

Noerenberg D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2024

38055913 (PubMed )
Supplement: DS3_JCO.23.01053.xlsx › Table_S2.7

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Levchenko O et al.

International Journal of Molecular Sciences, 2022

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants

Mutations in ADNP affect expression and subcellular localization of the protein.

Cappuyns E et al.

Cell Cycle (georgetown, Tex.), 2018

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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."