Varaico: Literature-Extracted Genetic Variants

Gene:GNAI1
Variant:p.A326P
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GNAI1

NM_002069.6:p.A326P

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

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1

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."