Varaico: Literature-Extracted Genetic Variants

Gene:GNAI1
Variant:p.I319T
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GNAI1

NM_002069.6:p.I319T

Associated Papers

Functional classification of GNAI1 disorder variants in Caenorhabditis elegans uncovers conserved and cell-specific mechanisms of dysfunction.

Salama R et al.

Genetics, 2025

Functional classification of GNAI1 disorder variants in C. elegans uncovers conserved and cell-specific mechanisms of dysfunction.

Salama R et al.

Biorxiv : the Preprint Server for Biology, 2025

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc24.xlsx › Sheet1

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 › DbMS-non_synonymous_ex

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_
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