Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.K274fs
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ADNP

NM_001282531.3:p.K274fs

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

Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome.

Buxbaum Grice AS et al.

Translational Psychiatry, 2024

39054328 (PubMed )
Supplement: 41398_2024_3005_MOESM2_ESM.xlsx › Participant_overview

Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome.

Grice ASB et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Krzyzewska IM et al.

Clinical Epigenetics, 2019

31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.

Bend EG et al.

Clinical Epigenetics, 2019

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."