Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.L121delFs
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ADNP

NM_001282531.3:p.L121delFs

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

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

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

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM11_ESM.xlsx › Supplementary_Data_9
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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."