Varaico: Literature-Extracted Genetic Variants

Gene:SON
Variant:p.R580G
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SON

NM_138927.4:p.R580G

Associated Papers

Meta-Analysis of Keratoconus Transcriptomic Data Revealed Altered RNA Editing Levels Impacting Keratin Genomic Clusters.

Bortoletto E et al.

Investigative Ophthalmology & Visual Science, 2023

Spatiotemporal and genetic regulation of A-to-I editing throughout human brain development.

Dredge WH et al.

Cell Reports, 2022

Cellular and genetic drivers of RNA editing variation in the human brain.

Cuddleston WH et al.

Nature Communications, 2022

35637184 (PubMed )
Supplement: 41467_2022_30531_MOESM8_ESM.xlsx › Recoding_matrix

ADAR-mediated RNA editing of DNA:RNA hybrids is required for DNA double strand break repair.

Jimeno S et al.

Nature Communications, 2021

34535666 (PubMed )
Supplement: 41467_2021_25790_MOESM3_ESM.xlsx › U118___ADAR2
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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."