Varaico: Literature-Extracted Genetic Variants

Gene:AGO1
Variant:p.V254I
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AGO1

NM_012199.5:p.V254I

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

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L17
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