Varaico: Literature-Extracted Genetic Variants

Gene:ADNP
Variant:p.V750_G758delFs
Back to variants list

ADNP

NM_001282531.3:p.V750_G758delFs

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

Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.

Hudac CM et al.

Journal of Autism and Developmental Disorders, 2024

37031308 (PubMed )
Supplement: 10803_2023_5897_MOESM2_ESM.xlsx › SITable2

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

Guo H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.

Feliciano P et al.

Npj Genomic Medicine, 2019

31452935 (PubMed )
Supplement: 41525_2019_93_MOESM12_ESM.xlsx › de_novo_SNV_indel

The autism spectrum phenotype in ADNP syndrome.

Arnett AB et al.

Autism Research : Official Journal of the International Society for Autism Research, 2018

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."