Varaico: Literature-Extracted Genetic Variants

Gene:GNAI1
Variant:p.Q52P
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GNAI1

NM_002069.6:p.Q52P

Associated Papers

Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease.

Solis GP et al.

Cells, 2021

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."