Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.G996S
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CHD7

NM_017780.4:p.G996S

Associated Papers

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

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_

Systematic phenomics analysis of autism-associated genes reveals parallel networks underlying reversible impairments in habituation.

McDiarmid TA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.

Wong WR et al.

Human Molecular Genetics, 2019

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

O'Roak BJ et al.

Nature, 2012

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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."