Varaico: Literature-Extracted Genetic Variants

Gene:GNAI1
Variant:p.K270R
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GNAI1

NM_002069.6:p.K270R

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

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development.

Wayhelova M et al.

Journal of Human Genetics, 2022

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_

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

Muir AM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."