Varaico: Literature-Extracted Genetic Variants

Gene:NCOR1
Variant:p.R2183H
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NCOR1

NM_006311.4:p.R2183H

Associated Papers

Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.

Tuncay IO et al.

Npj Genomic Medicine, 2025

41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_1

Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.

Bisikirska B et al.

Science Translational Medicine, 2024

39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Smolen C et al.

American Journal of Human Genetics, 2023

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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."