Varaico: Literature-Extracted Genetic Variants

Gene:AGO1
Variant:p.H751L
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AGO1

NM_012199.5:p.H751L

Associated Papers

Modeling neurodevelopmental disorder-associated human AGO1 mutations in Caenorhabditis elegans Argonaute alg-1.

Duan Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Modeling neurodevelopmental disorder-associated hAGO1 mutations in C. elegans Argonaute ALG-1.

Duan Y et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
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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."