Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.L369fs
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ADNP

NM_001282531.3:p.L369fs

Associated Papers

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_MOESM1_ESM.pdf

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

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

Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis.

Siper PM et al.

Genes, 2021

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

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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."