Varaico: Literature-Extracted Genetic Variants

Gene:AGO1
Variant:p.E376del1
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AGO1

NM_012199.5:p.E376del1

Associated Papers

The University of Wisconsin Undiagnosed Disease Program: Unveiling Rare Neurodevelopmental Disorders in Exome-Negative Patients.

Heilmann JM et al.

Wmj : Official Publication of the State Medical Society of Wisconsin, 2024

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 AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.

Niu Y et al.

Clinical Genetics, 2022

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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."