Varaico: Literature-Extracted Genetic Variants

Gene:G3BP2
Variant:p.L209P
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G3BP2

NM_203505.3:p.L209P

Associated Papers

Cerebellum and neurodevelopmental disorders: RORα is a unifying force.

Ribeiro S et al.

Frontiers in Cellular Neuroscience, 2023

37066074 (PubMed )
Supplement: Table_1.XLSX › SFARI_AutDB__2023

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

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
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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."