Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.L369_L370Fs
Back to variants list

ADNP

NM_001282531.3:p.L369_L370Fs

Associated Papers

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Rashid I et al.

Nar Genomics and Bioinformatics, 2025

41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."