Varaico: Literature-Extracted Genetic Variants

Gene:ADAR
Variant:p.E188K
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ADAR

NM_001111.5:p.E188K

Associated Papers

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Lessel I et al.

American Journal of Human Genetics, 2025

39798569 (PubMed )
Supplement: mmc1.pdf

Whole exome sequencing in patients with childhood-onset systemic lupus erythematosus: Results from a Croatian national study.

Sestan M et al.

Scandinavian Journal of Immunology, 2024

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
Select a paper to view details
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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."