Varaico: Literature-Extracted Genetic Variants

Gene:AGO1
Variant:p.T355I
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AGO1

NM_012199.5:p.T355I

Associated Papers

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.

Hennick K et al.

Biorxiv : the Preprint Server for Biology, 2025

40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs

Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder.

Takagi M et al.

American Journal of Medical Genetics. Part A, 2023

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

Schalk A et al.

Journal of Medical Genetics, 2022

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

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes

De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.

Niu Y et al.

Clinical 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_

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.

Sakaguchi A et al.

European Journal of Medical Genetics, 2019

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

O'Roak BJ et al.

Nature Communications, 2014

25418537 (PubMed )
Supplement: NIHMS636245-supplement-2.xlsx › Sheet_1
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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."