Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.Q345_S346delFs
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ADNP

NM_001282531.3:p.Q345_S346delFs

Associated Papers

Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.

Ek M et al.

Genome Medicine, 2026

41514368 (PubMed )
Supplement: 13073_2025_1596_MOESM2_ESM.xlsx › Table_S2

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

Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.

Vilela J et al.

Frontiers in Molecular Neuroscience, 2022

36061363 (PubMed )
Supplement: Table_7.xlsx › Rare_de_novo_LoF

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

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

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo
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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."