Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.K586insFs
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AHDC1

NM_001371928.1:p.K586insFs

Associated Papers

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

Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.

Lecoquierre F et al.

Scientific Reports, 2024

38438430 (PubMed )
Supplement: 41598_2024_53358_MOESM2_ESM.xlsx › Supp_table_1_variants_analyzed

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf

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."